Variant report

Variant	rs12319659
Chromosome Location	chr12:76085094-76085095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11180624	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11180625	0.93[ASN][1000 genomes]
rs11180639	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180640	1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180641	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11180644	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12315800	0.82[CHB][hapmap];0.98[ASN][1000 genomes]
rs12812846	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12822896	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12826237	1.00[ASN][1000 genomes]
rs17223072	1.00[ASN][1000 genomes]
rs17223194	0.82[CHB][hapmap];0.98[ASN][1000 genomes]
rs17223651	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2367073	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2367074	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2860083	0.86[AFR][1000 genomes]
rs34724924	0.95[ASN][1000 genomes]
rs35094428	0.90[ASN][1000 genomes]
rs35813830	1.00[ASN][1000 genomes]
rs35881531	0.88[ASN][1000 genomes]
rs4277147	0.88[YRI][hapmap]
rs67943440	0.93[ASN][1000 genomes]
rs7132221	1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71460142	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71460144	1.00[ASN][1000 genomes]
rs7295259	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295484	1.00[ASN][1000 genomes]
rs7295806	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7309843	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73124349	1.00[ASN][1000 genomes]
rs7313785	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967547	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv899314	chr12:76079814-76110751	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76076200-76098400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:76079000-76093600	Weak transcription	Psoas Muscle	Psoas
3	chr12:76079400-76099800	Weak transcription	Right Atrium	heart
4	chr12:76083600-76087400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:76083800-76087000	Enhancers	Osteobl	bone
6	chr12:76084200-76085800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:76084400-76085400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:76084400-76085400	Weak transcription	NHDF-Ad	bronchial
9	chr12:76084400-76086000	Weak transcription	NHLF	lung
10	chr12:76084400-76087800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:76084400-76087800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:76084600-76085800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:76084600-76088400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:76084600-76088400	Weak transcription	K562	blood
15	chr12:76084600-76088600	Weak transcription	A549	lung
16	chr12:76084600-76099600	Weak transcription	Pancreas	Pancrea
17	chr12:76085000-76085800	Weak transcription	HMEC	breast
18	chr12:76085000-76085800	Weak transcription	NHEK	skin
19	chr12:76085000-76086400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:76085000-76086400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:76085000-76087800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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