Variant report

Variant	rs4486678
Chromosome Location	chr12:8650136-8650137
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10734709	1.00[ASN][1000 genomes]
rs10734713	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743393	1.00[ASN][1000 genomes]
rs10743396	1.00[ASN][1000 genomes]
rs10770692	1.00[ASN][1000 genomes]
rs10770711	1.00[ASN][1000 genomes]
rs10770722	1.00[ASN][1000 genomes]
rs10770723	1.00[ASN][1000 genomes]
rs10770734	1.00[ASN][1000 genomes]
rs10770735	1.00[ASN][1000 genomes]
rs10770736	1.00[ASN][1000 genomes]
rs10770737	1.00[ASN][1000 genomes]
rs10770738	1.00[ASN][1000 genomes]
rs10770739	1.00[ASN][1000 genomes]
rs10770740	1.00[ASN][1000 genomes]
rs10770775	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770776	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770793	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841590	1.00[ASN][1000 genomes]
rs10841595	1.00[ASN][1000 genomes]
rs11045398	1.00[ASN][1000 genomes]
rs11045427	1.00[ASN][1000 genomes]
rs11045643	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045708	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045757	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045810	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11045914	1.00[ASN][1000 genomes]
rs11829089	1.00[ASN][1000 genomes]
rs12300621	1.00[ASN][1000 genomes]
rs12302015	1.00[ASN][1000 genomes]
rs12302854	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304190	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308954	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322968	1.00[ASN][1000 genomes]
rs12370044	1.00[ASN][1000 genomes]
rs4242888	1.00[ASN][1000 genomes]
rs4242889	1.00[ASN][1000 genomes]
rs4242891	1.00[ASN][1000 genomes]
rs4242892	1.00[ASN][1000 genomes]
rs4242893	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4255605	1.00[ASN][1000 genomes]
rs4264222	1.00[ASN][1000 genomes]
rs4268555	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4296104	1.00[ASN][1000 genomes]
rs4326877	1.00[ASN][1000 genomes]
rs4334073	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4343097	1.00[ASN][1000 genomes]
rs4384442	1.00[ASN][1000 genomes]
rs4387429	1.00[ASN][1000 genomes]
rs4388969	1.00[ASN][1000 genomes]
rs4402377	1.00[ASN][1000 genomes]
rs4420348	1.00[ASN][1000 genomes]
rs4420349	1.00[ASN][1000 genomes]
rs4420350	1.00[ASN][1000 genomes]
rs4427631	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4435079	1.00[ASN][1000 genomes]
rs4447245	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4460883	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4477485	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4520670	1.00[ASN][1000 genomes]
rs4528410	1.00[ASN][1000 genomes]
rs4565980	1.00[ASN][1000 genomes]
rs4576903	1.00[ASN][1000 genomes]
rs4616119	1.00[ASN][1000 genomes]
rs4622339	1.00[ASN][1000 genomes]
rs4623978	1.00[ASN][1000 genomes]
rs4625553	1.00[ASN][1000 genomes]
rs4628756	1.00[ASN][1000 genomes]
rs4638374	1.00[ASN][1000 genomes]
rs4640002	1.00[ASN][1000 genomes]
rs4641551	1.00[ASN][1000 genomes]
rs4882942	1.00[ASN][1000 genomes]
rs4882949	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882950	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882951	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883145	1.00[ASN][1000 genomes]
rs4883146	1.00[ASN][1000 genomes]
rs4883148	1.00[ASN][1000 genomes]
rs4883149	1.00[ASN][1000 genomes]
rs4883154	1.00[ASN][1000 genomes]
rs4883164	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883165	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57529938	1.00[ASN][1000 genomes]
rs58537563	1.00[ASN][1000 genomes]
rs60630733	1.00[ASN][1000 genomes]
rs61920536	1.00[ASN][1000 genomes]
rs61920537	1.00[ASN][1000 genomes]
rs61920538	1.00[ASN][1000 genomes]
rs61920539	1.00[ASN][1000 genomes]
rs61920540	1.00[ASN][1000 genomes]
rs61920541	1.00[ASN][1000 genomes]
rs61920543	1.00[ASN][1000 genomes]
rs61920546	1.00[ASN][1000 genomes]
rs6487135	1.00[ASN][1000 genomes]
rs6487136	1.00[ASN][1000 genomes]
rs6487209	0.87[EUR][1000 genomes]
rs7132871	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134303	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302011	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302950	1.00[ASN][1000 genomes]
rs7304092	1.00[ASN][1000 genomes]
rs7306661	1.00[ASN][1000 genomes]
rs7309596	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311079	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7312356	1.00[ASN][1000 genomes]
rs7312686	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312713	1.00[ASN][1000 genomes]
rs7315590	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315873	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962791	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963053	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964875	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968198	1.00[ASN][1000 genomes]
rs7969317	1.00[ASN][1000 genomes]
rs7969325	1.00[ASN][1000 genomes]
rs7976958	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978179	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040302	chr12:8245364-8695612	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541397	chr12:8245364-8695612	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1044543	chr12:8449100-8792569	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1039504	chr12:8494944-8780137	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv557342	chr12:8599397-8774527	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv933050	chr12:8602789-8775989	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv518772	chr12:8615809-8667579	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv518125	chr12:8615809-8671274	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1035270	chr12:8619562-8674062	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv933555	chr12:8627165-8775989	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv933639	chr12:8627243-8775989	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8646800-8652800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:8649400-8651400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:8649400-8652000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:8649400-8652000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:8649400-8652000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:8649600-8652000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:8649600-8652000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:8649600-8652200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:8649800-8652000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:8649800-8652000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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