Variant report

Variant	rs696616
Chromosome Location	chr1:150336173-150336174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2B	chr1:150336026-150336777	K562	blood:	n/a	n/a
2	MXI1	chr1:150336035-150337412	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:150335941-150337563	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAFK	chr1:150335671-150336825	K562	blood:	n/a	chr1:150336660-150336671
5	MAX	chr1:150335183-150338117	A549	lung:	n/a	n/a
6	CEBPB	chr1:150335726-150336454	ECC-1	luminal epithelium:	n/a	chr1:150335926-150335937 chr1:150335927-150335938 chr1:150335926-150335939 chr1:150335926-150335939
7	YY1	chr1:150335899-150337818	SK-N-SH	brain:	n/a	chr1:150336194-150336202 chr1:150336191-150336201 chr1:150336169-150336191 chr1:150336180-150336188
8	POLR2A	chr1:150335910-150336653	HUVEC	blood vessel:	n/a	n/a
9	MXI1	chr1:150335921-150337781	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:150335895-150337541	MCF-7	breast:	n/a	n/a
11	POLR2A	chr1:150335376-150337688	PANC-1	pancreas:	n/a	n/a
12	PAX5	chr1:150335881-150336455	GM12878	blood:	n/a	chr1:150336024-150336033
13	POLR2A	chr1:150335848-150337526	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:150335745-150337431	SK-N-SH	brain:	n/a	n/a
15	MAX	chr1:150335975-150336729	K562	blood:	n/a	n/a
16	SIN3AK20	chr1:150335866-150337433	SK-N-SH	brain:	n/a	n/a
17	RELA	chr1:150335898-150338100	GM10847	blood:	n/a	chr1:150337464-150337473 chr1:150337945-150337954 chr1:150337464-150337473 chr1:150337945-150337954
18	POLR2A	chr1:150335923-150337396	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:150335978-150337631	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:150335846-150338378	GM12892	blood:	n/a	n/a
21	POLR2A	chr1:150335689-150337504	K562	blood:	n/a	n/a
22	RCOR1	chr1:150335715-150337437	K562	blood:	n/a	n/a
23	USF2	chr1:150335861-150337010	Hela-S3	cervix:	n/a	n/a
24	REST	chr1:150335984-150336790	PFSK-1	brain:	n/a	chr1:150336383-150336396
25	ZMIZ1	chr1:150335644-150337584	K562	blood:	n/a	n/a
26	HA-E2F1	chr1:150335229-150337611	MCF-7	breast:	n/a	chr1:150336443-150336452 chr1:150336610-150336619 chr1:150336154-150336163 chr1:150336802-150336817
27	CREB1	chr1:150336007-150336774	H1-hESC	embryonic stem cell:	n/a	n/a
28	MTA3	chr1:150335288-150336350	GM12878	blood:	n/a	n/a
29	YY1	chr1:150335859-150337669	A549	lung:	n/a	chr1:150336194-150336202 chr1:150336191-150336201 chr1:150336169-150336191 chr1:150336180-150336188
30	ETS1	chr1:150335754-150337484	A549	lung:	n/a	chr1:150336028-150336035
31	CHD2	chr1:150336109-150336740	HepG2	liver:	n/a	n/a
32	BRCA1	chr1:150336139-150336367	HepG2	liver:	n/a	n/a
33	SP1	chr1:150336059-150336736	H1-hESC	embryonic stem cell:	n/a	chr1:150336593-150336602 chr1:150336632-150336639 chr1:150336589-150336603 chr1:150336338-150336347 chr1:150336593-150336603 chr1:150336592-150336604 chr1:150336593-150336603 chr1:150336356-150336369 chr1:150336514-150336535 chr1:150336592-150336604 chr1:150336594-150336603 chr1:150336336-150336348
34	NFIC	chr1:150335821-150336564	HepG2	liver:	n/a	n/a
35	E2F4	chr1:150335783-150337311	MCF10A-Er-Src	breast:	n/a	chr1:150336443-150336452 chr1:150336610-150336619 chr1:150336154-150336163 chr1:150336802-150336817
36	TCF7L2	chr1:150335918-150336750	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr1:150335287-150338346	GM12878	blood:	n/a	n/a
38	BCL3	chr1:150335436-150337005	A549	lung:	n/a	chr1:150336024-150336033 chr1:150336349-150336358
39	MXI1	chr1:150335473-150338000	IMR90	lung:	n/a	n/a
40	IRF1	chr1:150335761-150336899	K562	blood:	n/a	chr1:150336336-150336350 chr1:150336023-150336037 chr1:150336023-150336033 chr1:150336019-150336033 chr1:150336592-150336606 chr1:150336025-150336034 chr1:150336800-150336814
41	POLR2A	chr1:150334972-150338412	H1-hESC	embryonic stem cell:	n/a	n/a
42	JUND	chr1:150335988-150336826	A549	lung:	n/a	chr1:150336038-150336047
43	YY1	chr1:150336022-150336876	HCT-116	colon:	n/a	chr1:150336194-150336202 chr1:150336191-150336201 chr1:150336169-150336191 chr1:150336180-150336188
44	CHD2	chr1:150335679-150338276	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr1:150335861-150338249	Hela-S3	cervix:	n/a	n/a
46	IRF1	chr1:150335731-150336973	K562	blood:	n/a	chr1:150336336-150336350 chr1:150336023-150336037 chr1:150336023-150336033 chr1:150336019-150336033 chr1:150336592-150336606 chr1:150336025-150336034 chr1:150336800-150336814
47	GATA3	chr1:150335489-150337720	A549	lung:	n/a	chr1:150336543-150336552 chr1:150336082-150336099 chr1:150336044-150336054 chr1:150336081-150336090 chr1:150336038-150336048
48	YY1	chr1:150336026-150336666	GM12891	blood:	n/a	chr1:150336194-150336202 chr1:150336191-150336201 chr1:150336169-150336191 chr1:150336180-150336188
49	HEY1	chr1:150335808-150337442	K562	blood:	n/a	n/a
50	TCF7L2	chr1:150335944-150336657	HEK293	kidney:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150336129-150336179	HRE	kidney:	n/a
2	chr1:150336129-150336179	HRPEpiC	eye:	n/a
3	chr1:150336129-150336179	GM06990	blood:	n/a
4	chr1:150336129-150336179	SK-N-SH_RA	brain:	n/a
5	chr1:150336129-150336179	HL-60	blood:	n/a
6	chr1:150336129-150336179	H1-hESC	embryonic stem cell:	embryo
7	chr1:150336129-150336179	HCM	heart:	n/a
8	chr1:150336129-150336179	Hepatocyte	liver:	n/a
9	chr1:150336129-150336179	HAEpiC	amniotic membrane:	n/a
10	chr1:150336129-150336179	HepG2	liver:	n/a
11	chr1:150336129-150336179	GM12892	blood:	n/a
12	chr1:150336129-150336179	HNPCEpiC	eye:	n/a
13	chr1:150336129-150336179	AG10803	skin:	n/a
14	chr1:150336129-150336179	AG04450	lung:	fetal
15	chr1:150336129-150336179	K562	blood:	n/a
16	chr1:150336129-150336179	AG04449	skin:	fetal
17	chr1:150336129-150336179	Caco-2	colon:	n/a
18	chr1:150336129-150336179	SAEC	small airway:	n/a
19	chr1:150336129-150336179	GM19239	blood:	n/a
20	chr1:150336129-150336179	NB4	blood:	n/a
21	chr1:150336129-150336179	HPAEpiC	pulmonary alveolar:	n/a
22	chr1:150336129-150336179	BJ	skin:	n/a
23	chr1:150336129-150336179	HCT-116	colon:	n/a
24	chr1:150336129-150336179	NHBE	bronchial:	n/a
25	chr1:150336129-150336179	HUVEC	blood vessel:	n/a
26	chr1:150336129-150336179	HCF	heart:	n/a
27	chr1:150336129-150336179	RPTEC	kidney:	n/a
28	chr1:150336129-150336179	SKMC	muscle:	n/a
29	chr1:150336129-150336179	HEK293	kidney:	embryo
30	chr1:150336129-150336179	NH-A	brain:	n/a
31	chr1:150336129-150336179	SK-N-SH	brain:	n/a
32	chr1:150336129-150336179	NHDF-neo	bronchial:	n/a
33	chr1:150336129-150336179	AG09309	skin:	n/a
34	chr1:150336129-150336179	PANC-1	pancreas:	n/a
35	chr1:150336129-150336179	HEEpiC	esophagus:	n/a
36	chr1:150336129-150336179	U87	brain:	n/a
37	chr1:150336129-150336179	PrEC	prostate:	n/a
38	chr1:150336129-150336179	ovcar-3	ovarian:	n/a
39	chr1:150336129-150336179	HRCEpiC	kidney:	n/a
40	chr1:150336129-150336179	PFSK-1	brain:	n/a
41	chr1:150336129-150336179	Jurkat	blood:	n/a
42	chr1:150336129-150336179	HCPEpiC	choroid plexus:	n/a
43	chr1:150336129-150336179	A549	lung:	n/a
44	chr1:150336129-150336179	HMEC	breast:	n/a
45	chr1:150336129-150336179	LNCaP	prostate:	n/a
46	chr1:150336129-150336179	BE2_C	brain:	n/a
47	chr1:150336129-150336179	CMK	blood:	n/a
48	chr1:150336129-150336179	HIPEpiC	eye:	n/a
49	chr1:150336129-150336179	ProgFib	skin:	n/a
50	chr1:150336129-150336179	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150309217..150316448-chr1:150334640..150338012,6	MCF-7	breast:
2	chr1:150293876..150294422-chr1:150336012..150336634,2	MCF-7	breast:
3	chr1:150292363..150295488-chr1:150335350..150339295,4	K562	blood:
4	chr1:150252847..150256677-chr1:150333609..150339009,8	MCF-7	breast:
5	chr1:36106675..36107225-chr1:150335995..150336816,2	Hela-S3	cervix:
6	chr1:150336106..150336852-chr10:102819975..102820927,2	Hela-S3	cervix:
7	chr1:150333992..150336700-chr17:56707364..56709269,2	MCF-7	breast:
8	chr1:150335902..150337829-chr1:150486316..150488661,2	MCF-7	breast:
9	chr1:150206250..150210524-chr1:150335148..150338813,9	MCF-7	breast:
10	chr1:150240117..150242604-chr1:150335915..150338709,4	MCF-7	breast:
11	chr1:150334615..150337675-chr1:150520446..150522631,3	K562	blood:
12	chr1:121484263..121485024-chr1:150335978..150336622,2	NB4	blood:
13	chr1:150336132..150336701-chr16:11836186..11836800,2	Hela-S3	cervix:
14	chr1:150252708..150255493-chr1:150334761..150336728,2	K562	blood:
15	chr1:150335926..150336589-chr9:77642790..77643454,2	Hela-S3	cervix:
16	chr1:150205053..150211036-chr1:150333116..150338498,15	K562	blood:
17	chr1:150335804..150338048-chr1:151030580..151033260,2	MCF-7	breast:
18	chr1:150335998..150336571-chr12:56842574..56843085,2	Hela-S3	cervix:
19	chr1:150335977..150337917-chr1:150522488..150525265,2	MCF-7	breast:
20	chr1:150291213..150297860-chr1:150334210..150339087,16	MCF-7	breast:
21	chr1:150335940..150336785-chr11:319547..320441,2	Hela-S3	cervix:
22	chr1:150335627..150337411-chr1:150523310..150524923,2	K562	blood:
23	chr1:150265074..150268122-chr1:150334427..150338986,4	K562	blood:
24	chr1:150336147..150338066-chr1:150480366..150481943,2	MCF-7	breast:
25	chr1:150336056..150336950-chr1:203274470..203275332,3	Hela-S3	cervix:
26	chr1:150334566..150337465-chr1:150678330..150680323,3	K562	blood:
27	chr1:150336081..150337653-chr1:150849061..150850708,2	K562	blood:
28	chr1:150335967..150336672-chr11:62608620..62609634,3	Hela-S3	cervix:
29	chr1:150263378..150268409-chr1:150334980..150339088,9	MCF-7	breast:
30	chr1:150336077..150336631-chr9:127623452..127624434,2	Hela-S3	cervix:
31	chr1:150206810..150209611-chr1:150334795..150337634,4	MCF-7	breast:
32	chr1:149857620..149859875-chr1:150334860..150337178,2	K562	blood:
33	chr1:150317407..150321765-chr1:150335542..150338670,5	MCF-7	breast:
34	chr1:150336134..150336683-chr6:3118308..3119041,2	Hela-S3	cervix:
35	chr1:150318464..150321936-chr1:150334221..150338705,5	MCF-7	breast:
36	chr1:150336149..150337090-chr7:44646428..44647078,2	NB4	blood:
37	chr1:150336131..150338597-chr1:150480002..150483403,3	MCF-7	breast:
38	chr1:150203436..150211066-chr1:150333611..150339492,20	K562	blood:
39	chr1:150335444..150338410-chr1:150897207..150899165,2	MCF-7	breast:
40	chr1:150335458..150336308-chr6:27860075..27860942,2	Hela-S3	cervix:
41	chr1:149856073..149860566-chr1:150334860..150339370,4	K562	blood:
42	chr1:150334947..150337371-chr1:150979446..150982037,2	K562	blood:
43	chr1:150335216..150336742-chr1:150529512..150532436,2	MCF-7	breast:
44	chr1:150335716..150337496-chr1:150457670..150459977,2	MCF-7	breast:
45	chr1:150334379..150337370-chr6:30710721..30713568,2	MCF-7	breast:
46	chr1:150315314..150317184-chr1:150334891..150337567,3	MCF-7	breast:
47	chr1:150291489..150302169-chr1:150333998..150340807,28	MCF-7	breast:
48	chr1:150336029..150336886-chr4:54930517..54931295,2	NB4	blood:
49	chr1:150335880..150336556-chr7:72936567..72937158,2	Hela-S3	cervix:
50	chr1:150292375..150296656-chr1:150333833..150339442,8	K562	blood:

Variant related genes	Relation type
RPRD2	TF binding region
RPRD2	CpG island
ENSG00000197622	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000009954	Chromatin interaction
ENSG00000237781	Chromatin interaction
ENSG00000117360	Chromatin interaction
ENSG00000143452	Chromatin interaction
ENSG00000118292	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000109220	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000159208	Chromatin interaction
ENSG00000143369	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000117362	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000159388	Chromatin interaction
ENSG00000137274	Chromatin interaction
ENSG00000136942	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000156017	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000187145	Chromatin interaction
ENSG00000264553	Chromatin interaction
ENSG00000273162	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000153066	Chromatin interaction
ENSG00000136950	Chromatin interaction
ENSG00000143379	Chromatin interaction

Extended variants
information (count: 183 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:182)

rs_ID	r²[population]
rs1097067	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1097068	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1097070	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1103115	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11205357	0.95[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11205359	0.86[ASN][1000 genomes]
rs11205373	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11205385	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1122967	0.84[ASN][1000 genomes]
rs1145583	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11577600	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11577843	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11581351	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11582423	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs11587116	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11587575	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11587758	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11590324	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11590787	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12023378	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12028001	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12029359	0.87[CHB][hapmap];1.00[YRI][hapmap]
rs12040949	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12042229	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12042579	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12045304	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12046446	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12046899	0.87[CHB][hapmap]
rs12057558	1.00[YRI][hapmap]
rs1260367	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1260368	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1260378	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1260386	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1260388	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1260389	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1260394	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1260396	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1260398	0.86[ASN][1000 genomes]
rs1260400	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1260404	0.96[ASN][1000 genomes]
rs1260405	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1260406	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1260407	0.80[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1260409	0.94[ASN][1000 genomes]
rs1260411	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1260421	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1260422	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1260458	0.97[ASN][1000 genomes]
rs1260459	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1313570	0.97[ASN][1000 genomes]
rs13294	0.96[CEU][hapmap];0.93[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs1498308	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1614039	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1617829	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1625468	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1627235	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1631973	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1694362	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1694363	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1694364	0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1694369	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1694370	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1694375	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1694377	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1694380	0.80[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1694381	0.93[ASN][1000 genomes]
rs1694385	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1694390	0.91[ASN][1000 genomes]
rs1747927	0.92[ASN][1000 genomes]
rs17596326	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17597088	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1776273	0.80[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1776274	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1776276	0.90[ASN][1000 genomes]
rs1815544	0.80[AMR][1000 genomes]
rs1932934	0.87[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1972031	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2147324	0.87[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs2264418	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2274127	0.81[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs2454285	0.91[ASN][1000 genomes]
rs2454286	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2477121	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2762860	0.81[ASN][1000 genomes]
rs2794614	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2794615	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2794678	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2794679	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2794681	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2794682	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2794684	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2794685	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2797653	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2867893	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2867894	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2873669	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3125808	0.96[ASN][1000 genomes]
rs35057759	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3737240	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap]
rs3738487	1.00[ASW][hapmap];0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3820544	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3896342	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4333886	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4446975	0.87[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs4451552	0.87[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs45595332	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4581308	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs471464	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs471738	0.80[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs486275	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs488271	0.80[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4926394	0.93[ASN][1000 genomes]
rs4926395	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4926422	0.96[ASN][1000 genomes]
rs4926436	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4926437	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4970971	0.85[ASN][1000 genomes]
rs4971010	0.82[JPT][hapmap]
rs500812	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs509345	0.80[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[ASN][1000 genomes]
rs519126	0.91[ASN][1000 genomes]
rs521607	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs522435	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs543179	0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs55742549	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55823828	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55928222	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs55996928	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56214461	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs578353	0.80[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs580060	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs580159	0.86[ASN][1000 genomes]
rs59898460	0.80[AMR][1000 genomes]
rs61819386	0.83[ASN][1000 genomes]
rs6662108	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6672808	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6685252	0.83[ASN][1000 genomes]
rs6703652	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs696618	0.92[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap]
rs698913	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs698916	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs698918	0.95[ASN][1000 genomes]
rs698919	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs698923	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7002	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72696885	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72696900	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7511649	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs7512552	0.87[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.84[ASN][1000 genomes]
rs7513205	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7517441	0.96[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7523428	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7538981	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7539458	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7548085	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs7553867	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7554686	0.80[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs8006	0.80[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs828783	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs832621	0.93[ASN][1000 genomes]
rs832622	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs834228	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs834229	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs834230	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs834231	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs834232	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs834233	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs834234	0.87[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs834236	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs834241	0.93[ASN][1000 genomes]
rs834242	0.87[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs834243	0.95[ASN][1000 genomes]
rs844309	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9435997	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9436007	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9436008	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9436108	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9436112	0.96[CEU][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9436115	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9436119	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9436125	0.80[AMR][1000 genomes]
rs9436127	1.00[ASW][hapmap];0.96[CEU][hapmap];0.93[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs696616	POGZ	cis	cerebellum	SCAN
rs696616	C1orf54	cis	parietal	SCAN
rs696616	MRPS21	cis	parietal	SCAN
rs696616	SNX27	cis	parietal	SCAN
rs696616	POLR3GL	cis	cerebellum	SCAN
rs696616	MRPS21	Cis_1M	lymphoblastoid	RTeQTL
rs696616	MRPS21	cis	cerebellum	SCAN
rs696616	SEC22B	cis	parietal	SCAN
rs696616	CTSS	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150305600-150336200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:150320200-150336200	Weak transcription	Gastric	stomach
3	chr1:150334800-150339800	Active TSS	Thymus	Thymus
4	chr1:150335000-150336400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:150335200-150336200	Active TSS	Brain Germinal Matrix	brain
6	chr1:150335200-150338400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:150335200-150339200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:150335200-150339200	Active TSS	Duodenum Mucosa	Duodenum
9	chr1:150335200-150339400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr1:150335200-150339600	Active TSS	Stomach Smooth Muscle	stomach
11	chr1:150335400-150338600	Active TSS	Brain Hippocampus Middle	brain
12	chr1:150335400-150338800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:150335400-150338800	Active TSS	Esophagus	oesophagus
14	chr1:150335400-150339000	Active TSS	Fetal Brain Female	brain
15	chr1:150335400-150339200	Active TSS	Colonic Mucosa	Colon
16	chr1:150335400-150339400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:150335400-150339400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:150335400-150339400	Active TSS	Pancreas	Pancrea
19	chr1:150335400-150339600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr1:150335400-150339600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:150335400-150339600	Active TSS	Fetal Intestine Small	intestine
22	chr1:150335400-150339600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr1:150335600-150336200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:150335600-150336200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr1:150335600-150336600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr1:150335600-150337800	Active TSS	Primary T cells from cord blood	blood
27	chr1:150335600-150338000	Active TSS	Fetal Muscle Trunk	muscle
28	chr1:150335600-150338400	Active TSS	Colon Smooth Muscle	Colon
29	chr1:150335600-150338800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:150335600-150338800	Active TSS	Lung	lung
31	chr1:150335600-150338800	Active TSS	Small Intestine	intestine
32	chr1:150335600-150339000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:150335600-150339000	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr1:150335600-150339200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:150335600-150339200	Active TSS	Stomach Mucosa	stomach
36	chr1:150335600-150339400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:150335600-150339600	Active TSS	Aorta	Aorta
38	chr1:150335600-150339600	Active TSS	Left Ventricle	heart
39	chr1:150335600-150339600	Active TSS	Ovary	ovary
40	chr1:150335600-150339600	Active TSS	Psoas Muscle	Psoas
41	chr1:150335600-150339600	Active TSS	Right Atrium	heart
42	chr1:150335600-150339800	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr1:150335600-150339800	Active TSS	Right Ventricle	heart
44	chr1:150335600-150340000	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr1:150335600-150340000	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr1:150335800-150336200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:150335800-150336200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:150335800-150336200	Flanking Active TSS	HepG2	liver
49	chr1:150335800-150336600	Active TSS	Primary hematopoietic stem cells	blood
50	chr1:150335800-150336600	Active TSS	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links