Variant report

Variant	rs2199519
Chromosome Location	chr12:86149952-86149953
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 197 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:188)

rs_ID	r²[population]
rs10506918	1.00[CHB][hapmap]
rs10506920	1.00[ASN][1000 genomes]
rs10506921	0.93[ASN][1000 genomes]
rs10506922	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506923	1.00[ASN][1000 genomes]
rs10735486	1.00[ASN][1000 genomes]
rs10746353	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10779201	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10779202	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779203	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779206	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10779207	1.00[ASN][1000 genomes]
rs10779208	0.96[ASN][1000 genomes]
rs10779210	0.93[ASN][1000 genomes]
rs10863069	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863070	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863071	1.00[ASN][1000 genomes]
rs10863073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863076	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863077	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10863078	1.00[ASN][1000 genomes]
rs10863079	1.00[ASN][1000 genomes]
rs10863080	1.00[ASN][1000 genomes]
rs11117016	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11117017	1.00[ASN][1000 genomes]
rs11117019	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11117020	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11117021	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11117023	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11117051	1.00[CHB][hapmap]
rs11117052	1.00[CHB][hapmap]
rs11608717	0.86[ASN][1000 genomes]
rs11608719	0.86[ASN][1000 genomes]
rs11609351	1.00[ASN][1000 genomes]
rs11610120	0.86[ASN][1000 genomes]
rs11610371	1.00[ASN][1000 genomes]
rs11610627	0.86[ASN][1000 genomes]
rs11610763	0.86[ASN][1000 genomes]
rs11610789	0.86[ASN][1000 genomes]
rs11610846	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611968	0.86[ASN][1000 genomes]
rs11612432	0.86[ASN][1000 genomes]
rs11612928	0.86[ASN][1000 genomes]
rs11612938	0.86[ASN][1000 genomes]
rs11613070	0.86[ASN][1000 genomes]
rs11614513	0.86[ASN][1000 genomes]
rs11615116	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615953	1.00[CHB][hapmap]
rs11830880	0.86[ASN][1000 genomes]
rs11831336	0.80[ASN][1000 genomes]
rs11831936	0.86[ASN][1000 genomes]
rs11833148	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12297441	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12308839	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12309130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313658	1.00[CHB][hapmap]
rs12426417	1.00[ASN][1000 genomes]
rs12829972	0.86[ASN][1000 genomes]
rs1349060	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1349061	1.00[CHB][hapmap]
rs1349063	1.00[CHB][hapmap]
rs1448098	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17279133	1.00[ASN][1000 genomes]
rs17279205	0.93[ASN][1000 genomes]
rs17279240	1.00[ASN][1000 genomes]
rs17279261	1.00[ASN][1000 genomes]
rs17279289	1.00[ASN][1000 genomes]
rs17279338	1.00[ASN][1000 genomes]
rs17279464	1.00[ASN][1000 genomes]
rs17279916	0.86[ASN][1000 genomes]
rs17280216	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17280483	1.00[CHB][hapmap]
rs17280643	1.00[CHB][hapmap]
rs17344633	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17344834	1.00[ASN][1000 genomes]
rs17345028	0.93[ASN][1000 genomes]
rs17345272	1.00[ASN][1000 genomes]
rs17345299	1.00[ASN][1000 genomes]
rs17345522	0.86[ASN][1000 genomes]
rs17345849	1.00[CHB][hapmap]
rs17345975	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1900700	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2061686	0.86[ASN][1000 genomes]
rs2197769	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2199520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2219715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405613	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2405614	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405615	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2405621	1.00[ASN][1000 genomes]
rs34555363	0.86[ASN][1000 genomes]
rs34656916	1.00[ASN][1000 genomes]
rs34885805	1.00[ASN][1000 genomes]
rs35034633	0.86[ASN][1000 genomes]
rs35648674	0.86[ASN][1000 genomes]
rs36046732	0.86[ASN][1000 genomes]
rs4131243	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4278581	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4278582	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4341613	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4393398	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4412812	0.90[ASN][1000 genomes]
rs4436622	0.82[JPT][hapmap]
rs4462416	1.00[ASN][1000 genomes]
rs4559760	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4897818	1.00[ASN][1000 genomes]
rs4897823	1.00[ASN][1000 genomes]
rs4897827	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897828	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897829	0.93[ASN][1000 genomes]
rs4897830	0.86[ASN][1000 genomes]
rs4897831	0.86[ASN][1000 genomes]
rs4897834	0.86[ASN][1000 genomes]
rs4897844	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4919771	1.00[CHB][hapmap]
rs56135828	0.86[ASN][1000 genomes]
rs56291271	1.00[ASN][1000 genomes]
rs56330110	0.86[ASN][1000 genomes]
rs58742237	0.86[ASN][1000 genomes]
rs59668915	0.80[ASN][1000 genomes]
rs59858864	0.86[ASN][1000 genomes]
rs60000164	0.83[ASN][1000 genomes]
rs60539006	0.86[ASN][1000 genomes]
rs60947649	0.86[ASN][1000 genomes]
rs61928899	0.86[ASN][1000 genomes]
rs61928905	0.86[ASN][1000 genomes]
rs61928906	0.86[ASN][1000 genomes]
rs61928907	0.86[ASN][1000 genomes]
rs61928910	0.80[ASN][1000 genomes]
rs61928911	0.80[ASN][1000 genomes]
rs61928912	0.80[ASN][1000 genomes]
rs61928914	0.80[ASN][1000 genomes]
rs61928916	0.80[ASN][1000 genomes]
rs61930029	0.93[ASN][1000 genomes]
rs61930035	1.00[ASN][1000 genomes]
rs61930036	0.93[ASN][1000 genomes]
rs61930037	1.00[ASN][1000 genomes]
rs61930575	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930577	0.93[ASN][1000 genomes]
rs61930579	1.00[ASN][1000 genomes]
rs61930580	1.00[ASN][1000 genomes]
rs61930581	1.00[ASN][1000 genomes]
rs61930582	1.00[ASN][1000 genomes]
rs61930585	1.00[ASN][1000 genomes]
rs61930586	1.00[ASN][1000 genomes]
rs61930587	1.00[ASN][1000 genomes]
rs61930588	1.00[ASN][1000 genomes]
rs61930589	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930590	1.00[ASN][1000 genomes]
rs61930591	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930624	0.86[ASN][1000 genomes]
rs61930625	0.86[ASN][1000 genomes]
rs61930626	0.86[ASN][1000 genomes]
rs61930629	0.86[ASN][1000 genomes]
rs61930631	0.86[ASN][1000 genomes]
rs61930632	0.86[ASN][1000 genomes]
rs61930633	0.86[ASN][1000 genomes]
rs61930637	0.86[ASN][1000 genomes]
rs61930639	0.86[ASN][1000 genomes]
rs61930640	0.86[ASN][1000 genomes]
rs61930641	0.86[ASN][1000 genomes]
rs61930644	0.86[ASN][1000 genomes]
rs6539919	0.93[ASN][1000 genomes]
rs6539921	1.00[ASN][1000 genomes]
rs66656505	0.86[ASN][1000 genomes]
rs67914794	0.86[ASN][1000 genomes]
rs7136905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137041	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7307617	1.00[ASN][1000 genomes]
rs7307626	1.00[ASN][1000 genomes]
rs7314668	1.00[ASN][1000 genomes]
rs73174576	0.86[ASN][1000 genomes]
rs73176549	0.86[ASN][1000 genomes]
rs7397266	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs7399276	0.86[ASN][1000 genomes]
rs7399277	0.86[ASN][1000 genomes]
rs7954472	0.93[ASN][1000 genomes]
rs7959372	1.00[ASN][1000 genomes]
rs7968059	1.00[ASN][1000 genomes]
rs7976647	1.00[ASN][1000 genomes]
rs7979156	0.86[ASN][1000 genomes]
rs974816	1.00[ASN][1000 genomes]
rs974817	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs974818	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9788214	0.86[ASN][1000 genomes]
rs9788252	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1054475	chr12:85985510-86175711	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541561	chr12:85985510-86175711	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv455680	chr12:86120810-86160277	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv559666	chr12:86120810-86160277	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86148600-86150400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:86149400-86150400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr12:86149400-86150400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:86149400-86150800	Enhancers	HMEC	breast
5	chr12:86149400-86150800	Enhancers	NHEK	skin
6	chr12:86149600-86150000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:86149800-86150200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:86149800-86150800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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