Variant report

Variant	rs10160872
Chromosome Location	chr12:121333086-121333087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121331922..121335800-chr12:121336708..121340188,4	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1027556	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10431387	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10459142	0.92[ASN][1000 genomes]
rs10774569	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10774570	0.85[EUR][1000 genomes]
rs10774571	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10774573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774575	0.92[ASN][1000 genomes]
rs10774576	0.92[ASN][1000 genomes]
rs10849793	0.83[ASN][1000 genomes]
rs10849794	0.83[EUR][1000 genomes]
rs10849800	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10849803	0.91[EUR][1000 genomes]
rs10849805	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849806	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849810	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849812	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849813	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849814	0.94[EUR][1000 genomes]
rs10849815	0.89[ASN][1000 genomes]
rs10849816	0.89[ASN][1000 genomes]
rs11065272	0.82[ASN][1000 genomes]
rs11065298	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065313	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065319	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065320	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065321	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065322	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12231343	0.89[ASN][1000 genomes]
rs12310161	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12423697	0.83[EUR][1000 genomes]
rs2049211	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2393718	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34433264	0.89[ASN][1000 genomes]
rs3809314	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56137011	0.83[EUR][1000 genomes]
rs56161401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6489781	0.83[ASN][1000 genomes]
rs6489782	0.83[ASN][1000 genomes]
rs7131886	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7135147	0.83[ASN][1000 genomes]
rs7139145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs715319	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7296632	0.91[ASN][1000 genomes]
rs7298639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7306083	0.88[EUR][1000 genomes]
rs7315439	0.92[ASN][1000 genomes]
rs7316450	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73224325	0.87[EUR][1000 genomes]
rs73229156	0.88[EUR][1000 genomes]
rs7954254	0.90[EUR][1000 genomes]
rs7965332	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7977343	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv975642	chr12:121330910-121340230	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121288200-121339600	Weak transcription	Hela-S3	cervix
2	chr12:121294200-121340400	Weak transcription	HSMM	muscle
3	chr12:121297400-121339800	Weak transcription	A549	lung
4	chr12:121304600-121339800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:121312600-121339800	Weak transcription	Brain Germinal Matrix	brain
6	chr12:121312600-121339800	Weak transcription	NHDF-Ad	bronchial
7	chr12:121313400-121339800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:121313400-121339800	Weak transcription	Pancreas	Pancrea
9	chr12:121317200-121333400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:121317400-121338000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:121317600-121339600	Weak transcription	HMEC	breast
12	chr12:121317800-121339600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:121318200-121339600	Weak transcription	NHEK	skin
14	chr12:121318200-121340400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:121323200-121340000	Weak transcription	Fetal Lung	lung
16	chr12:121323600-121340600	Weak transcription	Aorta	Aorta
17	chr12:121324000-121340400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:121324400-121334000	Weak transcription	Small Intestine	intestine
19	chr12:121324400-121339600	Weak transcription	Brain Substantia Nigra	brain
20	chr12:121324400-121339800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:121324600-121339400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:121325400-121335200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:121325400-121335800	Weak transcription	Thymus	Thymus
24	chr12:121325800-121338000	Weak transcription	Fetal Brain Female	brain
25	chr12:121325800-121339800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:121326000-121339800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:121326400-121333400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:121326600-121340200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:121328200-121339800	Weak transcription	NHLF	lung
30	chr12:121329000-121339800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:121329000-121340000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:121329000-121340200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:121329000-121340400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:121329200-121339600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:121329200-121339800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:121329200-121339800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:121329200-121340000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:121329600-121336200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:121330000-121339600	Weak transcription	Brain Anterior Caudate	brain
40	chr12:121330000-121339800	Weak transcription	Liver	Liver
41	chr12:121330200-121338200	Weak transcription	Esophagus	oesophagus
42	chr12:121330200-121339200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:121330200-121340200	Weak transcription	HUVEC	blood vessel
44	chr12:121330400-121333400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:121330400-121333600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:121330400-121333800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:121330400-121333800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:121330400-121335600	Weak transcription	Colon Smooth Muscle	Colon
49	chr12:121330400-121335800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:121330400-121335800	Weak transcription	Right Ventricle	heart

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