Variant report

Variant	rs1748383
Chromosome Location	chr1:158173706-158173707
allele	C/T
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	BHLHE40	chr1:158173483-158173877	K562	blood:	n/a	n/a
2	CTCF	chr1:158173600-158173750	HAc	cerebellar:	n/a	n/a
3	FOS	chr1:158173615-158173821	MCF10A-Er-Src	breast:	n/a	n/a
4	RAD21	chr1:158173556-158174072	MCF-7	breast:	n/a	chr1:158173790-158173809 chr1:158173791-158173800
5	CTCF	chr1:158173580-158173730	WI-38	lung:	n/a	n/a
6	CTCF	chr1:158173628-158173997	Gliobla	brain:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
7	CTCF	chr1:158173700-158173850	GM12873	blood:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
8	RAD21	chr1:158173597-158173860	HepG2	liver:	n/a	chr1:158173790-158173809 chr1:158173791-158173800
9	ZNF217	chr1:158173541-158173962	MCF-7	breast:	n/a	n/a
10	RAD21	chr1:158173523-158174108	A549	lung:	n/a	chr1:158173790-158173809 chr1:158173791-158173800
11	CTCF	chr1:158173647-158173900	GM10248	blood:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
12	SMC3	chr1:158173509-158174349	Hela-S3	cervix:	n/a	chr1:158173791-158173805
13	CTCF	chr1:158173640-158173790	HFF	foreskin:	n/a	n/a
14	CTCF	chr1:158173680-158173830	NHEK	skin:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
15	CTCF	chr1:158173680-158173830	SK-N-SH_RA	brain:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
16	GATA1	chr1:158173336-158174119	PBDE	blood:	n/a	chr1:158173535-158173556 chr1:158173542-158173549 chr1:158173539-158173549 chr1:158173542-158173549 chr1:158173542-158173549
17	CTCF	chr1:158173700-158173850	HCPEpiC	choroid plexus:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
18	RAD21	chr1:158173609-158173988	SK-N-SH_RA	brain:	n/a	chr1:158173790-158173809 chr1:158173791-158173800
19	CTCF	chr1:158173700-158173850	GM12878	blood:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
20	FOXA1	chr1:158173623-158173862	T-47D	breast:	n/a	n/a
21	CTCF	chr1:158173677-158173992	H1-hESC	embryonic stem cell:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
22	TBL1XR1	chr1:158173452-158173919	K562	blood:	n/a	n/a
23	CTCF	chr1:158173630-158173973	Medullo	brain:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
24	RAD21	chr1:158173489-158174133	HCT-116	colon:	n/a	chr1:158173790-158173809 chr1:158173791-158173800
25	CTCF	chr1:158173595-158174094	MCF-7	breast:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
26	RAD21	chr1:158173585-158174070	GM12878	blood:	n/a	chr1:158173790-158173809 chr1:158173791-158173800
27	CTCF	chr1:158173680-158173830	HA-sp	spinal cord:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
28	CTCF	chr1:158173680-158173830	GM12875	blood:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
29	CTCF	chr1:158173680-158173830	GM12866	blood:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
30	TEAD4	chr1:158173420-158173851	K562	blood:	n/a	n/a
31	RAD21	chr1:158173615-158173978	IMR90	lung:	n/a	chr1:158173790-158173809 chr1:158173791-158173800
32	CTCF	chr1:158173587-158174021	T-47D	breast:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
33	CTCF	chr1:158173700-158173850	GM12866	blood:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
34	CREB1	chr1:158173458-158173990	GM12878	blood:	n/a	n/a
35	TEAD4	chr1:158173382-158173822	K562	blood:	n/a	n/a
36	MAZ	chr1:158173387-158173885	K562	blood:	n/a	n/a
37	SMC3	chr1:158173615-158173962	HepG2	liver:	n/a	chr1:158173791-158173805
38	MXI1	chr1:158173661-158174022	GM12878	blood:	n/a	n/a
39	STAT3	chr1:158173637-158173933	MCF10A-Er-Src	breast:	n/a	n/a
40	RAD21	chr1:158173600-158174057	MCF-7	breast:	n/a	chr1:158173790-158173809 chr1:158173791-158173800
41	CTCF	chr1:158173678-158173902	ECC-1	luminal epithelium:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
42	CTCF	chr1:158173680-158173830	GM12864	blood:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
43	ELK1	chr1:158173702-158173902	GM12878	blood:	n/a	n/a
44	CTCF	chr1:158173644-158173897	HepG2	liver:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
45	MYC	chr1:158173553-158173831	K562	blood:	n/a	n/a
46	CTCF	chr1:158173634-158173955	GM12878	blood:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
47	SIN3AK20	chr1:158173543-158174147	MCF-7	breast:	n/a	n/a
48	CTCF	chr1:158173560-158173710	A549	lung:	n/a	n/a
49	CTCF	chr1:158173554-158173865	K562	blood:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
50	RAD21	chr1:158173628-158174026	HepG2	liver:	n/a	chr1:158173790-158173809 chr1:158173791-158173800

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:158173687-158173737	PFSK-1	brain:	n/a
2	chr1:158173687-158173737	NT2-D1	testis:	n/a
3	chr1:158173687-158173737	HRCEpiC	kidney:	n/a
4	chr1:158173687-158173737	CMK	blood:	n/a
5	chr1:158173687-158173737	GM06990	blood:	n/a
6	chr1:158173687-158173737	HMEC	breast:	n/a
7	chr1:158173687-158173737	HCF	heart:	n/a
8	chr1:158173687-158173737	A549	lung:	n/a
9	chr1:158173687-158173737	H1-hESC	embryonic stem cell:	embryo
10	chr1:158173687-158173737	PrEC	prostate:	n/a
11	chr1:158173687-158173737	HCT-116	colon:	n/a
12	chr1:158173687-158173737	HL-60	blood:	n/a
13	chr1:158173687-158173737	NHDF-neo	bronchial:	n/a
14	chr1:158173687-158173737	ovcar-3	ovarian:	n/a
15	chr1:158173687-158173737	K562	blood:	n/a
16	chr1:158173687-158173737	IMR90	lung:	fetal
17	chr1:158173687-158173737	HIPEpiC	eye:	n/a
18	chr1:158173687-158173737	HNPCEpiC	eye:	n/a
19	chr1:158173687-158173737	MCF-7	breast:	n/a
20	chr1:158173687-158173737	HAEpiC	amniotic membrane:	n/a
21	chr1:158173687-158173737	HUVEC	blood vessel:	n/a
22	chr1:158173687-158173737	BJ	skin:	n/a
23	chr1:158173687-158173737	SK-N-MC	brain:	n/a
24	chr1:158173687-158173737	NHBE	bronchial:	n/a
25	chr1:158173687-158173737	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:158173687-158173737	SKMC	muscle:	n/a
27	chr1:158173687-158173737	NH-A	brain:	n/a
28	chr1:158173687-158173737	SK-N-SH	brain:	n/a
29	chr1:158173687-158173737	ProgFib	skin:	n/a
30	chr1:158173687-158173737	HRE	kidney:	n/a
31	chr1:158173687-158173737	AG09319	gingival:	n/a
32	chr1:158173687-158173737	GM19239	blood:	n/a
33	chr1:158173687-158173737	GM12891	blood:	n/a
34	chr1:158173687-158173737	AG09309	skin:	n/a
35	chr1:158173687-158173737	MCF10A-Er-Src	breast:	n/a
36	chr1:158173687-158173737	Caco-2	colon:	n/a
37	chr1:158173687-158173737	HCPEpiC	choroid plexus:	n/a
38	chr1:158173687-158173737	HRPEpiC	eye:	n/a
39	chr1:158173687-158173737	Hela-S3	cervix:	n/a
40	chr1:158173687-158173737	AG10803	skin:	n/a
41	chr1:158173687-158173737	HEEpiC	esophagus:	n/a
42	chr1:158173687-158173737	NB4	blood:	n/a
43	chr1:158173687-158173737	GM12892	blood:	n/a
44	chr1:158173687-158173737	HCM	heart:	n/a
45	chr1:158173687-158173737	HepG2	liver:	n/a
46	chr1:158173687-158173737	GM12878	blood:	n/a
47	chr1:158173687-158173737	PANC-1	pancreas:	n/a
48	chr1:158173687-158173737	Hepatocyte	liver:	n/a
49	chr1:158173687-158173737	AG04449	skin:	fetal
50	chr1:158173687-158173737	AoSMC	blood vessel:	n/a

Variant related genes	Relation type
ENSG00000176320	TF binding region
ENSG00000176320	CpG island

Extended variants
information (count: 159 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs10489821	0.92[CEU][hapmap]
rs10489823	0.92[CEU][hapmap]
rs11264929	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11264930	0.81[ASN][1000 genomes]
rs12040592	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12723141	0.81[CHB][hapmap]
rs12726365	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1570699	0.92[CEU][hapmap]
rs1622565	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1622690	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633135	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1633137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1633138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1633141	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633142	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633143	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633149	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap]
rs1633158	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1633159	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1633160	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1633161	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1690782	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1690783	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1748377	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748378	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1748379	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1748380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748386	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1748387	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1748395	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2518477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018315	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3087210	0.92[CEU][hapmap]
rs3087211	0.92[CEU][hapmap]
rs3087212	0.92[CEU][hapmap]
rs3118165	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs33998633	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34261126	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34768799	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35043390	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35200730	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35717739	0.99[ASN][1000 genomes]
rs35860011	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36120073	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs368130	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap]
rs372403	0.88[ASN][1000 genomes]
rs374513	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap];0.90[TSI][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs374686	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs377795	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs379522	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380015	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380314	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs380382	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs383688	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs383819	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs384378	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs384414	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs389495	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs392249	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs392333	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs393304	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap]
rs394591	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs394823	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs395614	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs399687	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs401904	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402135	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs402699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs404278	0.90[ASN][1000 genomes]
rs406361	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs406558	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs407309	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs407980	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap]
rs410919	0.88[ASN][1000 genomes]
rs411088	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411395	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs412713	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs413557	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs420074	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs421484	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs421719	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs422617	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs423405	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs427275	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs429201	1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs429379	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs432627	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs434232	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs434570	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs435349	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs437721	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs440862	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs440955	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs442076	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs442575	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs442713	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs448005	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs448556	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs449838	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs454825	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs583775	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs584126	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs590018	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs592815	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs594364	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs594840	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs607550	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs607948	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs607982	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs608279	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs611532	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs614164	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs620699	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs621880	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs622707	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs623215	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs651780	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652269	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs652786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661098	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6677683	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6684696	0.91[ASN][1000 genomes]
rs6690078	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs670766	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs671710	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs690734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690837	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs690984	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs691077	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs691174	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs691175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs691240	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs691306	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs691314	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs691318	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs691368	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs691551	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs691935	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs691983	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs692052	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs692564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71515589	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7530662	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7548147	0.85[CEU][hapmap]
rs859003	0.92[CEU][hapmap]
rs859005	0.92[CEU][hapmap]
rs859008	0.92[CEU][hapmap]
rs859009	0.91[CEU][hapmap]
rs859010	0.91[CEU][hapmap]
rs859013	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872480	chr1:158153526-158450238	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv13585	chr1:158159222-158214160	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1814455	chr1:158160528-158200312	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv508626	chr1:158161932-158242158	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1748383	NCSTN	cis	cerebellum	SCAN
rs1748383	LCE3A	cis	parietal	SCAN
rs1748383	GBAP1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158170200-158173800	Active TSS	Fetal Thymus	thymus
2	chr1:158172400-158174200	Active TSS	Thymus	Thymus
3	chr1:158172800-158173800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:158173400-158173800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:158173400-158173800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:158173400-158173800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:158173400-158173800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:158173400-158173800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:158173400-158173800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:158173400-158173800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:158173400-158174200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr1:158173400-158174200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr1:158173400-158174200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr1:158173400-158174400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
15	chr1:158173400-158174600	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:158173400-158174600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:158173600-158173800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr1:158173600-158173800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
19	chr1:158173600-158173800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:158173600-158173800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:158173600-158173800	Active TSS	Dnd41	blood
22	chr1:158173600-158173800	Enhancers	K562	blood
23	chr1:158173600-158174000	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr1:158173600-158174000	Bivalent Enhancer	Fetal Kidney	kidney
25	chr1:158173600-158174200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:158173600-158174400	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr1:158173600-158174400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:158173600-158174400	Enhancers	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links