Variant report

Variant	rs17302931
Chromosome Location	chr5:43192453-43192454
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr5:43192093-43192558	GM12892	blood:	n/a	n/a
2	MAX	chr5:43192122-43193165	MCF-7	breast:	n/a	chr5:43192735-43192745 chr5:43192150-43192160
3	MAX	chr5:43191797-43192566	H1-hESC	embryonic stem cell:	n/a	chr5:43192150-43192160
4	CTCF	chr5:43192320-43192470	GM12866	blood:	n/a	n/a
5	CTCF	chr5:43192364-43192468	GM10266	blood:	n/a	n/a
6	E2F6	chr5:43192346-43193323	A549	lung:	n/a	n/a
7	CTCF	chr5:43192408-43192484	GM19238	blood:	n/a	n/a
8	MAX	chr5:43191885-43193196	ECC-1	luminal epithelium:	n/a	chr5:43192735-43192745 chr5:43192150-43192160
9	CTCF	chr5:43192358-43192464	MCF-7	breast:	n/a	n/a
10	MXI1	chr5:43191620-43194505	SK-N-SH	brain:	n/a	chr5:43193906-43193921 chr5:43193904-43193919
11	MAX	chr5:43192296-43192483	HepG2	liver:	n/a	n/a
12	POLR2A	chr5:43191784-43193105	H1-neurons	neurons:	n/a	n/a
13	MAX	chr5:43191918-43193210	ECC-1	luminal epithelium:	n/a	chr5:43192735-43192745 chr5:43192150-43192160
14	CTCF	chr5:43192340-43192490	GM12871	blood:	n/a	n/a
15	MXI1	chr5:43191696-43194765	IMR90	lung:	n/a	chr5:43193906-43193921 chr5:43193904-43193919
16	REST	chr5:43191849-43194301	H1-neurons	neurons:	n/a	n/a
17	SIN3AK20	chr5:43192220-43192589	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr5:43192190-43192467	K562	blood:	n/a	n/a
19	CTCF	chr5:43192361-43192464	GM19239	blood:	n/a	n/a
20	CTCF	chr5:43192359-43192454	MCF-7	breast:	n/a	n/a
21	ELF1	chr5:43191848-43193143	GM12878	blood:	n/a	n/a
22	MXI1	chr5:43191809-43192466	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr5:43192392-43192470	MCF-7	breast:	n/a	n/a
24	MAX	chr5:43192232-43193407	A549	lung:	n/a	chr5:43192735-43192745
25	POLR2A	chr5:43192211-43192619	GM12892	blood:	n/a	n/a
26	NFYB	chr5:43192055-43192468	GM12878	blood:	n/a	n/a
27	MAX	chr5:43192116-43193993	A549	lung:	n/a	chr5:43193906-43193915 chr5:43193822-43193831 chr5:43192735-43192745 chr5:43193674-43193684 chr5:43192150-43192160
28	POLR2A	chr5:43192451-43192461	MCF-7	breast:	n/a	n/a
29	POLR2A	chr5:43192229-43192545	GM12891	blood:	n/a	n/a
30	SIN3AK20	chr5:43192122-43192499	SK-N-SH	brain:	n/a	n/a
31	ZNF263	chr5:43191970-43193691	HEK293-T-REx	kidney:	n/a	chr5:43192609-43192618 chr5:43192595-43192604
32	CTCF	chr5:43192440-43192590	GM12873	blood:	n/a	n/a
33	ZBTB7A	chr5:43191906-43192794	ECC-1	luminal epithelium:	n/a	n/a
34	REST	chr5:43191854-43193061	U87	brain:	n/a	n/a
35	POLR2A	chr5:43191862-43193149	H1-neurons	neurons:	n/a	n/a
36	YY1	chr5:43192016-43192529	GM12892	blood:	n/a	n/a
37	REST	chr5:43191965-43192560	SK-N-SH	brain:	n/a	n/a
38	RCOR1	chr5:43192308-43192500	GM12878	blood:	n/a	n/a
39	SIN3A	chr5:43191680-43194305	H1-hESC	embryonic stem cell:	n/a	n/a
40	SIN3AK20	chr5:43191672-43192540	H1-hESC	embryonic stem cell:	n/a	n/a
41	ZBTB7A	chr5:43191845-43192796	ECC-1	luminal epithelium:	n/a	n/a
42	CTCF	chr5:43192354-43192484	GM12892	blood:	n/a	n/a
43	CTBP2	chr5:43191763-43193522	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43192428-43192478	NHDF-neo	bronchial:	n/a
2	chr5:43192428-43192478	HepG2	liver:	n/a
3	chr5:43192428-43192478	GM12892	blood:	n/a
4	chr5:43192428-43192478	Hepatocyte	liver:	n/a
5	chr5:43192428-43192478	HMEC	breast:	n/a
6	chr5:43192428-43192478	MCF-7	breast:	n/a
7	chr5:43192428-43192478	Jurkat	blood:	n/a
8	chr5:43192428-43192478	HEEpiC	esophagus:	n/a
9	chr5:43192428-43192478	HRPEpiC	eye:	n/a
10	chr5:43192428-43192478	NH-A	brain:	n/a
11	chr5:43192428-43192478	PFSK-1	brain:	n/a
12	chr5:43192428-43192478	GM19239	blood:	n/a
13	chr5:43192428-43192478	GM12878	blood:	n/a
14	chr5:43192428-43192478	BE2_C	brain:	n/a
15	chr5:43192428-43192478	ovcar-3	ovarian:	n/a
16	chr5:43192428-43192478	CMK	blood:	n/a
17	chr5:43192428-43192478	H1-hESC	embryonic stem cell:	embryo
18	chr5:43192428-43192478	HCPEpiC	choroid plexus:	n/a
19	chr5:43192428-43192478	SK-N-SH_RA	brain:	n/a
20	chr5:43192428-43192478	PANC-1	pancreas:	n/a
21	chr5:43192428-43192478	HCT-116	colon:	n/a
22	chr5:43192428-43192478	U87	brain:	n/a
23	chr5:43192428-43192478	NT2-D1	testis:	n/a
24	chr5:43192428-43192478	HNPCEpiC	eye:	n/a
25	chr5:43192428-43192478	SK-N-SH	brain:	n/a
26	chr5:43192428-43192478	LNCaP	prostate:	n/a
27	chr5:43192428-43192478	HEK293	kidney:	embryo
28	chr5:43192428-43192478	Caco-2	colon:	n/a
29	chr5:43192428-43192478	HRCEpiC	kidney:	n/a
30	chr5:43192428-43192478	AG09309	skin:	n/a
31	chr5:43192428-43192478	ProgFib	skin:	n/a
32	chr5:43192428-43192478	ECC-1	luminal epithelium:	n/a
33	chr5:43192428-43192478	Hela-S3	cervix:	n/a
34	chr5:43192428-43192478	A549	lung:	n/a
35	chr5:43192428-43192478	HRE	kidney:	n/a
36	chr5:43192428-43192478	HPAEpiC	pulmonary alveolar:	n/a
37	chr5:43192428-43192478	HCF	heart:	n/a
38	chr5:43192428-43192478	HCM	heart:	n/a
39	chr5:43192428-43192478	NHBE	bronchial:	n/a
40	chr5:43192428-43192478	T-47D	breast:	n/a
41	chr5:43192428-43192478	HL-60	blood:	n/a
42	chr5:43192428-43192478	IMR90	lung:	fetal
43	chr5:43192428-43192478	RPTEC	kidney:	n/a
44	chr5:43192428-43192478	AG10803	skin:	n/a
45	chr5:43192428-43192478	K562	blood:	n/a
46	chr5:43192428-43192478	SK-N-MC	brain:	n/a
47	chr5:43192428-43192478	SKMC	muscle:	n/a
48	chr5:43192428-43192478	AoSMC	blood vessel:	n/a
49	chr5:43192428-43192478	HIPEpiC	eye:	n/a
50	chr5:43192428-43192478	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43192100..43194083-chr5:43481713..43484639,2	MCF-7	breast:
2	chr5:43191118..43192645-chr5:43192728..43194544,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC114947.1.1-3	chr5:43192173-43192513	NONHSAT101299
2	lnc-AC114947.1.1-3	chr5:43192333-43192513	NONHSAT101300

No data

Variant related genes	Relation type
NIM1K	TF binding region
NIM1K	CpG island
ENSG00000177453	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs1001717	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12652363	0.90[ASN][1000 genomes]
rs12653864	0.81[JPT][hapmap]
rs12654798	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs12657208	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12659721	0.83[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs13153077	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13153860	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13154654	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13158800	0.96[EUR][1000 genomes]
rs13159390	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13161127	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13163892	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13164183	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13164889	1.00[ASW][hapmap];0.92[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs13166780	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13167375	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13167690	0.90[EUR][1000 genomes]
rs13167991	1.00[CEU][hapmap]
rs13169195	0.81[CEU][hapmap]
rs13170322	0.91[CEU][hapmap]
rs13171192	0.85[EUR][1000 genomes]
rs13171253	1.00[ASW][hapmap];0.91[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13172378	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13174226	0.81[CEU][hapmap]
rs13174772	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13176080	0.81[CEU][hapmap]
rs13178478	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13180496	1.00[CEU][hapmap]
rs13181290	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13182652	0.93[ASN][1000 genomes]
rs13186091	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs13186549	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13189565	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13189574	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13190109	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16873177	0.91[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17242731	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17242995	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17243023	1.00[ASW][hapmap];0.91[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17243086	0.91[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17243165	0.81[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17243515	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17302596	0.91[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2005510	0.88[EUR][1000 genomes]
rs2085100	0.91[CEU][hapmap]
rs2291632	0.83[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs28548198	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34071473	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34205479	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34242142	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34258100	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34302880	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34333393	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34375419	0.90[EUR][1000 genomes]
rs34448278	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34517361	0.84[EUR][1000 genomes]
rs34552214	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34973629	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34992478	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35018789	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35106307	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35199583	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35230086	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35285338	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35321959	0.92[EUR][1000 genomes]
rs35397154	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35484826	0.88[EUR][1000 genomes]
rs35593061	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35645372	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35665483	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35673052	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35754881	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35759340	0.99[EUR][1000 genomes]
rs35839054	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35855029	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35859204	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35949944	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35998500	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36054188	0.91[EUR][1000 genomes]
rs36106080	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36122541	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36125638	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3752831	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3752832	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3797306	1.00[ASW][hapmap];0.91[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3797307	1.00[ASW][hapmap];0.91[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3797308	0.91[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3797309	1.00[ASW][hapmap];0.91[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56889091	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56923657	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58028166	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs585302	0.81[JPT][hapmap]
rs632730	1.00[CEU][hapmap]
rs67190423	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67596313	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67756718	0.91[EUR][1000 genomes]
rs71590635	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71627575	0.88[EUR][1000 genomes]
rs71627578	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71627579	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71627580	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71627583	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71627584	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71627585	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71627586	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71627587	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72748883	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72748886	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72748897	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750704	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72750764	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750780	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73092493	0.90[ASN][1000 genomes]
rs782988	0.90[ASN][1000 genomes]
rs878234	1.00[CEU][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17302931	ZNF131	cis	Artery Tibial	GTEx
rs17302931	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43178000-43193200	Weak transcription	Hela-S3	cervix
2	chr5:43190200-43193200	Enhancers	Fetal Heart	heart
3	chr5:43191000-43193800	Active TSS	Brain Cingulate Gyrus	brain
4	chr5:43191000-43194200	Active TSS	Brain Anterior Caudate	brain
5	chr5:43191200-43194200	Active TSS	NHDF-Ad	bronchial
6	chr5:43191200-43194400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr5:43191200-43194800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:43191600-43193200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr5:43191600-43193600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr5:43191600-43193800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr5:43191600-43193800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:43191600-43194000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr5:43191600-43194000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
14	chr5:43191600-43194600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:43191600-43194800	Active TSS	Brain Angular Gyrus	brain
16	chr5:43191800-43192600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:43191800-43192600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr5:43191800-43192600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:43191800-43192600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr5:43191800-43192600	Active TSS	Right Atrium	heart
21	chr5:43191800-43192800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
22	chr5:43191800-43192800	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr5:43191800-43192800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:43191800-43193000	Flanking Active TSS	Liver	Liver
25	chr5:43191800-43193000	Active TSS	Fetal Kidney	kidney
26	chr5:43191800-43193000	Flanking Active TSS	Left Ventricle	heart
27	chr5:43191800-43193000	Flanking Active TSS	Ovary	ovary
28	chr5:43191800-43193200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
29	chr5:43191800-43193200	Flanking Active TSS	Esophagus	oesophagus
30	chr5:43191800-43193200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
31	chr5:43191800-43193200	Flanking Active TSS	Pancreas	Pancrea
32	chr5:43191800-43193200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr5:43191800-43193400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
34	chr5:43191800-43193400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr5:43191800-43193400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
36	chr5:43191800-43193400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:43191800-43193400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr5:43191800-43193400	Flanking Bivalent TSS/Enh	Thymus	Thymus
39	chr5:43191800-43193600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr5:43191800-43193600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr5:43191800-43193600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
42	chr5:43191800-43193600	Active TSS	Colon Smooth Muscle	Colon
43	chr5:43191800-43193600	Active TSS	Gastric	stomach
44	chr5:43191800-43193600	Active TSS	Psoas Muscle	Psoas
45	chr5:43191800-43193800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:43191800-43193800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr5:43191800-43193800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr5:43191800-43194200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr5:43191800-43195000	Active TSS	Brain Substantia Nigra	brain
50	chr5:43192000-43192600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links