Variant report

Variant	rs1122176
Chromosome Location	chr12:29162354-29162355
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10843302	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10843314	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10843315	0.81[EUR][1000 genomes]
rs11049982	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11049984	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11049993	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11049994	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11049996	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050000	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050002	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050016	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11050027	0.81[EUR][1000 genomes]
rs12228134	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313069	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17706344	0.83[EUR][1000 genomes]
rs17707217	0.87[CEU][hapmap]
rs73061763	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73074110	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73074119	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7952775	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7972564	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv557888	chr12:29158183-29163291	Enhancers	n/a	n/a	inside rSNPs	diseases
6	nsv557889	chr12:29158183-29164515	Enhancers	n/a	n/a	inside rSNPs	diseases
7	nsv557890	chr12:29158183-29167983	Enhancers	n/a	n/a	inside rSNPs	diseases
8	esv3509368	chr12:29160485-29165983	Enhancers	n/a	n/a	inside rSNPs	diseases
9	esv999221	chr12:29160579-29164985	Enhancers	n/a	n/a	inside rSNPs	diseases
10	esv3484785	chr12:29161330-29165138	Enhancers	n/a	n/a	inside rSNPs	diseases
11	esv21179	chr12:29161450-29164823	Enhancers	n/a	n/a	inside rSNPs	diseases
12	esv3484763	chr12:29161535-29164944	Enhancers	n/a	n/a	inside rSNPs	diseases
13	esv3509367	chr12:29161584-29164965	Enhancers	n/a	n/a	inside rSNPs	diseases
14	esv3509369	chr12:29161585-29164944	Enhancers	n/a	n/a	inside rSNPs	diseases
15	esv3509370	chr12:29161585-29164965	Enhancers	n/a	n/a	inside rSNPs	diseases
16	esv3484796	chr12:29161588-29164914	Enhancers	n/a	n/a	inside rSNPs	diseases
17	esv3484774	chr12:29161599-29164905	Enhancers	n/a	n/a	inside rSNPs	diseases
18	esv3484807	chr12:29161607-29164871	Enhancers	n/a	n/a	inside rSNPs	diseases
19	esv996399	chr12:29161652-29164990	Enhancers	n/a	n/a	inside rSNPs	diseases
20	esv3484818	chr12:29161677-29164838	Enhancers	n/a	n/a	inside rSNPs	diseases
21	nsv557891	chr12:29162180-29163077	Enhancers	n/a	n/a	inside rSNPs	diseases
22	nsv557892	chr12:29162180-29163291	Enhancers	n/a	n/a	inside rSNPs	diseases
23	nsv557893	chr12:29162180-29163796	Enhancers	n/a	n/a	inside rSNPs	diseases
24	nsv557894	chr12:29162180-29164361	Enhancers	n/a	n/a	inside rSNPs	diseases
25	nsv557895	chr12:29162180-29164515	Enhancers	n/a	n/a	inside rSNPs	diseases
26	nsv557896	chr12:29162283-29163077	Enhancers	n/a	n/a	inside rSNPs	diseases
27	nsv557897	chr12:29162283-29163291	Enhancers	n/a	n/a	inside rSNPs	diseases
28	nsv557898	chr12:29162283-29164361	Enhancers	n/a	n/a	inside rSNPs	diseases
29	nsv557899	chr12:29162283-29164515	Enhancers	n/a	n/a	inside rSNPs	diseases
30	nsv557900	chr12:29162283-29167983	Enhancers	n/a	n/a	inside rSNPs	diseases
31	nsv557901	chr12:29162354-29163291	Enhancers	n/a	n/a	inside rSNPs	diseases
32	nsv557902	chr12:29162354-29163796	Enhancers	n/a	n/a	inside rSNPs	diseases
33	nsv557903	chr12:29162354-29164361	Enhancers	n/a	n/a	inside rSNPs	diseases
34	nsv557904	chr12:29162354-29164515	Enhancers	n/a	n/a	inside rSNPs	diseases
35	nsv557905	chr12:29162354-29167983	Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29161400-29162400	Enhancers	HMEC	breast
2	chr12:29161400-29162400	Enhancers	NHEK	skin
3	chr12:29161600-29162400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:29161600-29162400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:29161800-29162400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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