Variant report

Variant	rs12496516
Chromosome Location	chr3:163873606-163873607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 171 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10804812	0.80[AMR][1000 genomes]
rs10936408	0.83[AMR][1000 genomes]
rs10936411	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10936414	0.83[ASN][1000 genomes]
rs11536323	0.83[AMR][1000 genomes]
rs11543537	0.83[AMR][1000 genomes]
rs11706518	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11709197	0.83[AMR][1000 genomes]
rs11710319	0.83[AMR][1000 genomes]
rs11711476	0.80[AMR][1000 genomes]
rs11712717	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11714036	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11715639	0.80[AMR][1000 genomes]
rs11717385	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11718123	0.83[AMR][1000 genomes]
rs11718667	0.80[AMR][1000 genomes]
rs11719283	0.81[AMR][1000 genomes]
rs12053977	0.83[ASN][1000 genomes]
rs12054354	0.83[ASN][1000 genomes]
rs12163632	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12486292	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12486898	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12487536	0.80[AMR][1000 genomes]
rs12487948	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12488423	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12488755	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12489916	0.80[AMR][1000 genomes]
rs12490006	0.83[AMR][1000 genomes]
rs12490037	0.83[AMR][1000 genomes]
rs12490057	0.83[AMR][1000 genomes]
rs12490198	0.81[AMR][1000 genomes]
rs12490986	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12491407	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12491958	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12492243	0.80[AMR][1000 genomes]
rs12492246	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12493169	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12494841	0.80[AMR][1000 genomes]
rs12494921	0.83[AMR][1000 genomes]
rs12495248	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12495535	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12495540	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12495977	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12496876	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12497350	0.80[AMR][1000 genomes]
rs12631347	0.80[AMR][1000 genomes]
rs12632594	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12638057	0.80[AMR][1000 genomes]
rs1321538	0.81[AMR][1000 genomes]
rs1321539	0.82[AMR][1000 genomes]
rs1321549	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1349285	0.80[AMR][1000 genomes]
rs1349607	0.80[AMR][1000 genomes]
rs1375832	0.80[AMR][1000 genomes]
rs1375833	0.80[AMR][1000 genomes]
rs1375834	0.80[AMR][1000 genomes]
rs1375835	0.80[AMR][1000 genomes]
rs1375839	0.80[AMR][1000 genomes]
rs1407078	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1449927	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1449932	0.80[AMR][1000 genomes]
rs1449933	0.80[AMR][1000 genomes]
rs1449934	0.80[AMR][1000 genomes]
rs1452156	0.83[AMR][1000 genomes]
rs1452157	0.83[AMR][1000 genomes]
rs1452161	0.80[AMR][1000 genomes]
rs1452162	0.80[AMR][1000 genomes]
rs1470670	0.83[AMR][1000 genomes]
rs1470799	0.84[AMR][1000 genomes]
rs1530755	0.83[AMR][1000 genomes]
rs1584556	0.83[AMR][1000 genomes]
rs1590223	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1597402	0.83[AMR][1000 genomes]
rs16847680	0.80[AMR][1000 genomes]
rs16847692	0.80[AMR][1000 genomes]
rs16847698	0.80[AMR][1000 genomes]
rs16847708	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16847734	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16847815	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1839412	0.80[AMR][1000 genomes]
rs1839413	0.80[AMR][1000 genomes]
rs1992985	0.80[AMR][1000 genomes]
rs1992986	0.83[AMR][1000 genomes]
rs1992987	0.80[AMR][1000 genomes]
rs2122375	0.83[AMR][1000 genomes]
rs2167122	0.83[AMR][1000 genomes]
rs2197949	0.83[AMR][1000 genomes]
rs2198280	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2218768	0.83[AMR][1000 genomes]
rs2365544	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2366086	0.83[ASN][1000 genomes]
rs2366087	0.83[ASN][1000 genomes]
rs2366088	0.83[ASN][1000 genomes]
rs34424956	0.84[ASN][1000 genomes]
rs34720743	0.82[AMR][1000 genomes]
rs35351537	0.80[AMR][1000 genomes]
rs35446408	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4280642	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4289352	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4411886	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55680832	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55912583	0.83[AMR][1000 genomes]
rs55922928	0.83[AMR][1000 genomes]
rs55923107	0.80[AMR][1000 genomes]
rs56011219	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56121628	0.83[AMR][1000 genomes]
rs56212321	0.83[AMR][1000 genomes]
rs56408530	0.83[AMR][1000 genomes]
rs56668299	0.83[AMR][1000 genomes]
rs59281714	0.80[AMR][1000 genomes]
rs59583312	0.83[AMR][1000 genomes]
rs60419632	0.83[AMR][1000 genomes]
rs60735329	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs722534	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73170752	0.80[AMR][1000 genomes]
rs73170753	0.80[AMR][1000 genomes]
rs73172621	0.80[AMR][1000 genomes]
rs73172622	0.80[AMR][1000 genomes]
rs73172626	0.83[AMR][1000 genomes]
rs73172627	0.81[AMR][1000 genomes]
rs73172632	0.83[AMR][1000 genomes]
rs73172635	0.82[AMR][1000 genomes]
rs7429375	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9647384	0.85[AMR][1000 genomes]
rs9647389	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877820	chr3:163557163-164167085	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	esv2757903	chr3:163602449-163910060	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759199	chr3:163602449-163910060	Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv428097	chr3:163602449-163910060	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv428425	chr3:163602449-163910060	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv877825	chr3:163620918-164126802	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1002992	chr3:163670436-163935375	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1012169	chr3:163673654-163911342	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
9	nsv997626	chr3:163747480-163883789	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv997859	chr3:163751814-163915341	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
11	nsv877833	chr3:163761825-164109377	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1009069	chr3:163787128-164323219	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
13	nsv877834	chr3:163795964-163981544	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
14	nsv877835	chr3:163795964-164018044	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
15	nsv877836	chr3:163795964-164109377	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
16	nsv877837	chr3:163823186-163930675	Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
17	nsv877838	chr3:163823186-163981544	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
18	nsv877839	chr3:163823186-164126802	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
19	nsv1004324	chr3:163829339-163918909	ZNF genes & repeats Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
20	nsv592435	chr3:163832166-164138131	Strong transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
21	nsv520501	chr3:163832988-163962485	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
22	nsv877840	chr3:163832988-164200220	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
23	nsv829783	chr3:163834874-163983738	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
24	nsv428746	chr3:163834875-163983738	ZNF genes & repeats Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
25	nsv877841	chr3:163835270-163898428	Enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
26	nsv877842	chr3:163835270-163910768	Enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
27	nsv877843	chr3:163835270-164126802	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
28	nsv592436	chr3:163836487-163895047	Strong transcription ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
29	nsv877844	chr3:163836487-163902187	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
30	nsv877845	chr3:163836487-163910768	Strong transcription Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
31	nsv877846	chr3:163836487-164018044	Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
32	nsv877847	chr3:163849580-164126802	ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
33	nsv877848	chr3:163857437-163922738	Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
34	nsv877849	chr3:163857437-164092986	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
35	esv3350422	chr3:163858299-163883405	Enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	n/a
36	nsv877850	chr3:163861355-163934363	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
37	nsv877851	chr3:163861355-163938046	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
38	nsv877852	chr3:163861355-164126802	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
39	nsv877853	chr3:163864862-163910768	ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
40	nsv877854	chr3:163864862-163934363	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
41	nsv877855	chr3:163864862-164018044	Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
42	nsv877856	chr3:163864862-164026338	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
43	nsv877857	chr3:163864862-164046501	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
44	nsv877858	chr3:163864862-164126802	Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
45	nsv1006181	chr3:163870058-163913537	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
46	esv3362710	chr3:163871058-163874656	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163870200-163874600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163873400-163873800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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