Variant report

Variant	rs72692813
Chromosome Location	chr1:149899885-149899886
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:451)
CpG islands
(count:61)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:149899285-149900425	GM12878	blood:	n/a	n/a
2	BHLHE40	chr1:149899533-149900395	K562	blood:	n/a	n/a
3	POLR2A	chr1:149899109-149900400	HUVEC	blood vessel:	n/a	n/a
4	USF2	chr1:149899626-149900426	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:149899456-149900449	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:149899422-149900535	H1-hESC	embryonic stem cell:	n/a	n/a
7	GABPA	chr1:149899373-149899928	HepG2	liver:	n/a	chr1:149899472-149899481 chr1:149899741-149899750
8	TAF1	chr1:149899441-149900305	SK-N-SH	brain:	n/a	n/a
9	ELF1	chr1:149899387-149899945	HepG2	liver:	n/a	chr1:149899714-149899723 chr1:149899738-149899750 chr1:149899713-149899724
10	POLR2A	chr1:149899317-149900532	K562	blood:	n/a	n/a
11	FOXA1	chr1:149899506-149899963	T-47D	breast:	n/a	n/a
12	GABPA	chr1:149899477-149899947	H1-hESC	embryonic stem cell:	n/a	chr1:149899741-149899750
13	TAF1	chr1:149899469-149900255	Hela-S3	cervix:	n/a	n/a
14	GATA3	chr1:149899209-149900518	MCF-7	breast:	n/a	chr1:149899235-149899245
15	MAFK	chr1:149899477-149900333	Hela-S3	cervix:	n/a	n/a
16	STAT5A	chr1:149899353-149900027	GM12878	blood:	n/a	chr1:149899513-149899525 chr1:149899512-149899524
17	SIN3AK20	chr1:149899310-149900546	HCT-116	colon:	n/a	n/a
18	IRF1	chr1:149899488-149900506	K562	blood:	n/a	chr1:149899740-149899754 chr1:149899800-149899813 chr1:149899977-149899987 chr1:149899977-149899991
19	FOSL2	chr1:149899275-149900330	A549	lung:	n/a	chr1:149899589-149899603 chr1:149899978-149899990
20	ETS1	chr1:149899217-149900015	A549	lung:	n/a	chr1:149899711-149899722 chr1:149899713-149899722 chr1:149899713-149899722 chr1:149899711-149899721
21	TEAD4	chr1:149899367-149900314	A549	lung:	n/a	n/a
22	HEY1	chr1:149899491-149900276	HepG2	liver:	n/a	n/a
23	RFX5	chr1:149899324-149900402	Hela-S3	cervix:	n/a	n/a
24	MXI1	chr1:149899048-149900437	HepG2	liver:	n/a	n/a
25	POLR2A	chr1:149899322-149900831	HCT-116	colon:	n/a	n/a
26	TAF1	chr1:149899454-149900007	K562	blood:	n/a	n/a
27	PML	chr1:149899312-149900448	MCF-7	breast:	n/a	n/a
28	GABPA	chr1:149898674-149900805	MCF-7	breast:	n/a	chr1:149899472-149899481 chr1:149899741-149899750
29	PAX5	chr1:149899393-149899956	GM12892	blood:	n/a	chr1:149899758-149899767 chr1:149899710-149899719
30	RELA	chr1:149899314-149900004	GM19099	blood:	n/a	n/a
31	POLR2A	chr1:149899191-149900773	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr1:149899434-149900011	HUVEC	blood vessel:	n/a	n/a
33	TAF1	chr1:149899347-149900292	K562	blood:	n/a	n/a
34	TAF1	chr1:149899533-149899948	GM12892	blood:	n/a	n/a
35	ATF2	chr1:149899510-149900441	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:149899215-149900534	ProgFib	skin:	n/a	n/a
37	SIN3AK20	chr1:149899253-149900049	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr1:149899443-149900276	GM10847	blood:	n/a	n/a
39	TAF1	chr1:149899418-149900344	H1-hESC	embryonic stem cell:	n/a	n/a
40	TBP	chr1:149899552-149899978	K562	blood:	n/a	n/a
41	ELK1	chr1:149899481-149900198	Hela-S3	cervix:	n/a	n/a
42	HA-E2F1	chr1:149899191-149900200	MCF-7	breast:	n/a	chr1:149899494-149899509 chr1:149899472-149899481
43	POLR2A	chr1:149899329-149900460	Hela-S3	cervix:	n/a	n/a
44	ZMIZ1	chr1:149899485-149900244	K562	blood:	n/a	n/a
45	CHD2	chr1:149899137-149900284	GM12878	blood:	n/a	chr1:149899470-149899480
46	POLR2A	chr1:149899401-149900426	PBDE	blood:	n/a	n/a
47	YY1	chr1:149899339-149900333	H1-hESC	embryonic stem cell:	n/a	chr1:149899472-149899481 chr1:149899781-149899803 chr1:149899738-149899752
48	PBX3	chr1:149899456-149899989	A549	lung:	n/a	n/a
49	TCF12	chr1:149899544-149899941	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:149898841-149900902	SK-N-MC	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:149899881-149899931	NB4	blood:	n/a
2	chr1:149899881-149899931	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:149899881-149899931	PANC-1	pancreas:	n/a
4	chr1:149899881-149899931	HAEpiC	amniotic membrane:	n/a
5	chr1:149899881-149899931	SK-N-SH_RA	brain:	n/a
6	chr1:149899881-149899931	HEK293	kidney:	embryo
7	chr1:149899881-149899931	GM12878	blood:	n/a
8	chr1:149899881-149899931	HIPEpiC	eye:	n/a
9	chr1:149899881-149899931	HCPEpiC	choroid plexus:	n/a
10	chr1:149899881-149899931	NHBE	bronchial:	n/a
11	chr1:149899881-149899931	IMR90	lung:	fetal
12	chr1:149899881-149899931	HRPEpiC	eye:	n/a
13	chr1:149899881-149899931	AG09309	skin:	n/a
14	chr1:149899881-149899931	LNCaP	prostate:	n/a
15	chr1:149899881-149899931	GM06990	blood:	n/a
16	chr1:149899881-149899931	HCT-116	colon:	n/a
17	chr1:149899881-149899931	ProgFib	skin:	n/a
18	chr1:149899881-149899931	U87	brain:	n/a
19	chr1:149899881-149899931	ovcar-3	ovarian:	n/a
20	chr1:149899881-149899931	BJ	skin:	n/a
21	chr1:149899881-149899931	NH-A	brain:	n/a
22	chr1:149899881-149899931	HRCEpiC	kidney:	n/a
23	chr1:149899881-149899931	AG09319	gingival:	n/a
24	chr1:149899881-149899931	SAEC	small airway:	n/a
25	chr1:149899881-149899931	RPTEC	kidney:	n/a
26	chr1:149899881-149899931	MCF10A-Er-Src	breast:	n/a
27	chr1:149899881-149899931	GM12892	blood:	n/a
28	chr1:149899881-149899931	GM19239	blood:	n/a
29	chr1:149899881-149899931	HUVEC	blood vessel:	n/a
30	chr1:149899881-149899931	AG04450	lung:	fetal
31	chr1:149899881-149899931	BE2_C	brain:	n/a
32	chr1:149899881-149899931	HL-60	blood:	n/a
33	chr1:149899881-149899931	NT2-D1	testis:	n/a
34	chr1:149899881-149899931	A549	lung:	n/a
35	chr1:149899881-149899931	PrEC	prostate:	n/a
36	chr1:149899881-149899931	PFSK-1	brain:	n/a
37	chr1:149899881-149899931	AG04449	skin:	fetal
38	chr1:149899881-149899931	GM12891	blood:	n/a
39	chr1:149899881-149899931	CMK	blood:	n/a
40	chr1:149899881-149899931	NHDF-neo	bronchial:	n/a
41	chr1:149899881-149899931	AoSMC	blood vessel:	n/a
42	chr1:149899881-149899931	HRE	kidney:	n/a
43	chr1:149899881-149899931	HCF	heart:	n/a
44	chr1:149899881-149899931	HMEC	breast:	n/a
45	chr1:149899881-149899931	Caco-2	colon:	n/a
46	chr1:149899881-149899931	H1-hESC	embryonic stem cell:	embryo
47	chr1:149899881-149899931	MCF-7	breast:	n/a
48	chr1:149899881-149899931	SK-N-SH	brain:	n/a
49	chr1:149899881-149899931	ECC-1	luminal epithelium:	n/a
50	chr1:149899881-149899931	T-47D	breast:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149899389..149899917-chr17:47022111..47022743,2	Hela-S3	cervix:
2	chr1:149899712..149901578-chr17:57922642..57925190,2	MCF-7	breast:
3	chr1:149899174..149900209-chr9:140135334..140136049,4	Hela-S3	cervix:
4	chr1:149898401..149901391-chr1:150266202..150267826,2	MCF-7	breast:
5	chr1:149898390..149901293-chr1:150207723..150209690,2	K562	blood:
6	chr1:149899325..149899918-chr18:21166428..21167061,2	Hela-S3	cervix:
7	chr1:149899645..149900310-chr14:34931155..34932030,2	HCT-116	colon:
8	chr1:149899633..149900419-chr16:19124707..19125544,2	Hela-S3	cervix:
9	chr1:149896924..149901430-chr1:149978916..149983998,7	MCF-7	breast:
10	chr1:149899426..149900366-chr8:86089491..86090377,2	HCT-116	colon:
11	chr1:149898402..149900304-chr17:62222265..62224622,2	MCF-7	breast:
12	chr1:149898324..149902062-chr1:150037827..150040253,4	MCF-7	breast:
13	chr1:149899173..149900038-chr9:139981131..139981882,2	HCT-116	colon:
14	chr1:149898259..149901942-chr1:149980885..149984493,5	MCF-7	breast:
15	chr1:149899386..149900210-chr22:43011185..43011858,2	Hela-S3	cervix:
16	chr1:149820332..149822757-chr1:149897925..149900178,4	MCF-7	breast:
17	chr1:149899730..149900499-chr16:4896864..4897624,2	Hela-S3	cervix:
18	chr1:149899695..149901741-chr1:150039776..150042138,2	K562	blood:
19	chr1:149899325..149901492-chr15:44087690..44089956,2	MCF-7	breast:
20	chr1:149897900..149900101-chr1:150038034..150041085,3	K562	blood:
21	chr1:149813582..149820276-chr1:149898052..149903861,9	MCF-7	breast:

No data

Variant related genes	Relation type
SF3B4	TF binding region
SF3B4	CpG island
ENSG00000163113	Chromatin interaction
ENSG00000129521	Chromatin interaction
ENSG00000141458	Chromatin interaction
ENSG00000203819	Chromatin interaction
ENSG00000165389	Chromatin interaction
ENSG00000133740	Chromatin interaction
ENSG00000159210	Chromatin interaction
ENSG00000220323	Chromatin interaction
ENSG00000140632	Chromatin interaction
ENSG00000203812	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000183558	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000261427	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000272993	Chromatin interaction
ENSG00000205730	Chromatin interaction
ENSG00000261716	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000177239	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000187145	Chromatin interaction
ENSG00000242028	Chromatin interaction
ENSG00000201524	Chromatin interaction

Extended variants
information (count: 196 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:194)

rs_ID	r²[population]
rs1044808	0.87[EUR][1000 genomes]
rs1046332	0.81[EUR][1000 genomes]
rs10494261	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494264	1.00[ASN][1000 genomes]
rs10494363	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10749674	1.00[ASN][1000 genomes]
rs10888568	1.00[ASN][1000 genomes]
rs11205307	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205308	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205317	1.00[ASN][1000 genomes]
rs11205319	1.00[ASN][1000 genomes]
rs11205321	1.00[ASN][1000 genomes]
rs11205326	1.00[ASN][1000 genomes]
rs11205331	1.00[ASN][1000 genomes]
rs11205333	1.00[ASN][1000 genomes]
rs11577346	1.00[ASN][1000 genomes]
rs11583720	1.00[ASN][1000 genomes]
rs11584091	1.00[ASN][1000 genomes]
rs11584354	1.00[ASN][1000 genomes]
rs11585955	1.00[ASN][1000 genomes]
rs11587963	1.00[ASN][1000 genomes]
rs11589585	1.00[ASN][1000 genomes]
rs12058090	1.00[ASN][1000 genomes]
rs12058502	1.00[ASN][1000 genomes]
rs12060027	1.00[ASN][1000 genomes]
rs12060211	1.00[ASN][1000 genomes]
rs12060830	1.00[ASN][1000 genomes]
rs12061196	1.00[ASN][1000 genomes]
rs12061565	1.00[ASN][1000 genomes]
rs12061856	1.00[ASN][1000 genomes]
rs12062387	0.87[EUR][1000 genomes]
rs12062861	1.00[ASN][1000 genomes]
rs12063059	1.00[ASN][1000 genomes]
rs12063281	1.00[ASN][1000 genomes]
rs12063329	1.00[ASN][1000 genomes]
rs12065681	1.00[ASN][1000 genomes]
rs12066132	1.00[ASN][1000 genomes]
rs12066293	1.00[ASN][1000 genomes]
rs12067422	1.00[ASN][1000 genomes]
rs12073359	1.00[ASN][1000 genomes]
rs12074281	1.00[ASN][1000 genomes]
rs12077623	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12078573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081082	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087578	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12093499	1.00[ASN][1000 genomes]
rs12098106	1.00[ASN][1000 genomes]
rs12138231	1.00[ASN][1000 genomes]
rs1339494	1.00[ASN][1000 genomes]
rs1339495	1.00[ASN][1000 genomes]
rs1349532	0.87[EUR][1000 genomes]
rs1376675	0.87[EUR][1000 genomes]
rs1376676	0.87[EUR][1000 genomes]
rs1451641	0.87[EUR][1000 genomes]
rs1545762	1.00[ASN][1000 genomes]
rs15931	0.86[EUR][1000 genomes]
rs16833149	1.00[ASN][1000 genomes]
rs16835135	0.91[EUR][1000 genomes]
rs16836630	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17643644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1804775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964542	1.00[ASN][1000 genomes]
rs1975957	1.00[ASN][1000 genomes]
rs2027349	1.00[ASN][1000 genomes]
rs2039800	1.00[ASN][1000 genomes]
rs2044891	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2198194	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2318763	1.00[ASN][1000 genomes]
rs2319280	1.00[ASN][1000 genomes]
rs28366567	1.00[ASN][1000 genomes]
rs28443768	1.00[ASN][1000 genomes]
rs28560140	1.00[ASN][1000 genomes]
rs28660389	1.00[ASN][1000 genomes]
rs28753817	1.00[ASN][1000 genomes]
rs3208509	1.00[ASN][1000 genomes]
rs35230744	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850838	1.00[ASN][1000 genomes]
rs3925724	1.00[ASN][1000 genomes]
rs4058847	1.00[ASN][1000 genomes]
rs41264630	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41265185	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41302101	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45548131	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926407	1.00[ASN][1000 genomes]
rs4926408	1.00[ASN][1000 genomes]
rs55633017	0.87[EUR][1000 genomes]
rs55633125	1.00[ASN][1000 genomes]
rs55647342	1.00[ASN][1000 genomes]
rs55664407	0.87[EUR][1000 genomes]
rs55705001	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55840680	1.00[ASN][1000 genomes]
rs55840906	1.00[ASN][1000 genomes]
rs55885412	0.86[EUR][1000 genomes]
rs55909733	1.00[ASN][1000 genomes]
rs55918911	1.00[ASN][1000 genomes]
rs56119131	0.87[EUR][1000 genomes]
rs56125600	1.00[ASN][1000 genomes]
rs56139516	0.87[EUR][1000 genomes]
rs56188926	1.00[ASN][1000 genomes]
rs56212907	1.00[ASN][1000 genomes]
rs56229803	0.87[EUR][1000 genomes]
rs56265028	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56349882	1.00[ASN][1000 genomes]
rs56369603	1.00[ASN][1000 genomes]
rs58426216	1.00[ASN][1000 genomes]
rs59054339	1.00[ASN][1000 genomes]
rs59607464	1.00[ASN][1000 genomes]
rs61355654	0.87[EUR][1000 genomes]
rs6657062	1.00[ASN][1000 genomes]
rs6666959	1.00[ASN][1000 genomes]
rs6682495	0.90[EUR][1000 genomes]
rs6687454	1.00[ASN][1000 genomes]
rs67450539	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68002561	0.87[EUR][1000 genomes]
rs68144650	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692803	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692804	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692805	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692807	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692808	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692810	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692811	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692812	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692814	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692819	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692834	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692835	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692837	1.00[ASN][1000 genomes]
rs72692840	1.00[ASN][1000 genomes]
rs72692842	1.00[ASN][1000 genomes]
rs72692843	1.00[ASN][1000 genomes]
rs72692849	1.00[ASN][1000 genomes]
rs72692851	1.00[ASN][1000 genomes]
rs72692854	1.00[ASN][1000 genomes]
rs72692857	1.00[ASN][1000 genomes]
rs72692861	1.00[ASN][1000 genomes]
rs72692862	1.00[ASN][1000 genomes]
rs72692865	1.00[ASN][1000 genomes]
rs72692866	1.00[ASN][1000 genomes]
rs72692869	1.00[ASN][1000 genomes]
rs72692886	1.00[ASN][1000 genomes]
rs72692893	1.00[ASN][1000 genomes]
rs72692895	1.00[ASN][1000 genomes]
rs72692896	1.00[ASN][1000 genomes]
rs72692897	1.00[ASN][1000 genomes]
rs72692898	1.00[ASN][1000 genomes]
rs72692899	1.00[ASN][1000 genomes]
rs72692900	1.00[ASN][1000 genomes]
rs72692901	1.00[ASN][1000 genomes]
rs72694905	1.00[ASN][1000 genomes]
rs72694906	1.00[ASN][1000 genomes]
rs72694908	1.00[ASN][1000 genomes]
rs72694914	1.00[ASN][1000 genomes]
rs72694915	1.00[ASN][1000 genomes]
rs72694917	1.00[ASN][1000 genomes]
rs72694918	1.00[ASN][1000 genomes]
rs72694919	1.00[ASN][1000 genomes]
rs72694923	1.00[ASN][1000 genomes]
rs72694926	1.00[ASN][1000 genomes]
rs72694927	1.00[ASN][1000 genomes]
rs72694928	1.00[ASN][1000 genomes]
rs72694933	1.00[ASN][1000 genomes]
rs72694936	1.00[ASN][1000 genomes]
rs72694942	1.00[ASN][1000 genomes]
rs72694944	1.00[ASN][1000 genomes]
rs72694945	1.00[ASN][1000 genomes]
rs72694946	1.00[ASN][1000 genomes]
rs72694950	1.00[ASN][1000 genomes]
rs72694951	1.00[ASN][1000 genomes]
rs72694953	1.00[ASN][1000 genomes]
rs72708145	0.81[EUR][1000 genomes]
rs72708148	0.86[EUR][1000 genomes]
rs72708149	0.86[EUR][1000 genomes]
rs72708150	0.86[EUR][1000 genomes]
rs72708151	0.87[EUR][1000 genomes]
rs72708152	0.87[EUR][1000 genomes]
rs72708153	0.87[EUR][1000 genomes]
rs72708157	0.87[EUR][1000 genomes]
rs72708158	0.90[EUR][1000 genomes]
rs72708162	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73008195	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519918	1.00[ASN][1000 genomes]
rs7520930	1.00[ASN][1000 genomes]
rs7524797	0.90[EUR][1000 genomes]
rs7530922	1.00[ASN][1000 genomes]
rs7532876	1.00[ASN][1000 genomes]
rs7540847	1.00[ASN][1000 genomes]
rs7544531	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550323	1.00[ASN][1000 genomes]
rs7553622	1.00[ASN][1000 genomes]
rs7554367	1.00[ASN][1000 genomes]
rs9662055	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149898600-149900000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:149898600-149900400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
3	chr1:149898600-149900400	Active TSS	HSMMtube	muscle
4	chr1:149898600-149900600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr1:149898600-149900600	Active TSS	Psoas Muscle	Psoas
6	chr1:149898800-149900000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:149898800-149900000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:149898800-149900000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:149898800-149900000	Active TSS	NHLF	lung
10	chr1:149898800-149900200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr1:149898800-149900400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:149898800-149900400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:149898800-149900400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:149898800-149900400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:149898800-149900400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:149898800-149900400	Active TSS	Ovary	ovary
17	chr1:149898800-149900600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:149898800-149900600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:149898800-149900800	Active TSS	H1 Cell Line	embryonic stem cell
20	chr1:149899000-149900000	Active TSS	Muscle Satellite Cultured Cells	--
21	chr1:149899000-149900000	Active TSS	Fetal Lung	lung
22	chr1:149899000-149900000	Active TSS	Stomach Mucosa	stomach
23	chr1:149899000-149900000	Active TSS	NH-A	brain
24	chr1:149899000-149900200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:149899000-149900200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:149899000-149900200	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:149899000-149900200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:149899000-149900200	Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr1:149899000-149900200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:149899000-149900200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:149899000-149900200	Active TSS	Colon Smooth Muscle	Colon
32	chr1:149899000-149900200	Active TSS	Esophagus	oesophagus
33	chr1:149899000-149900200	Active TSS	Hela-S3	cervix
34	chr1:149899000-149900200	Active TSS	K562	blood
35	chr1:149899000-149900200	Active TSS	NHDF-Ad	bronchial
36	chr1:149899000-149900400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:149899000-149900400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:149899000-149900400	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr1:149899000-149900400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:149899000-149900400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:149899000-149900400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:149899000-149900400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:149899000-149900400	Active TSS	Aorta	Aorta
44	chr1:149899000-149900400	Active TSS	Fetal Heart	heart
45	chr1:149899000-149900400	Active TSS	Fetal Kidney	kidney
46	chr1:149899000-149900400	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr1:149899000-149900400	Active TSS	GM12878-XiMat	blood
48	chr1:149899000-149900400	Active TSS	HSMM	muscle
49	chr1:149899000-149900600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:149899000-149900600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

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