Variant report

Variant	rs17115488
Chromosome Location	chr12:76086197-76086198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12299593	1.00[AMR][1000 genomes]
rs12322226	1.00[AMR][1000 genomes]
rs17115466	1.00[AMR][1000 genomes]
rs17115472	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115501	0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17126462	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9805125	1.00[AMR][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	chr12:76084400-76087800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:76084400-76087800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:76084600-76088400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:76084600-76088400	Weak transcription	K562	blood
10	chr12:76084600-76088600	Weak transcription	A549	lung
11	chr12:76084600-76099600	Weak transcription	Pancreas	Pancrea
12	chr12:76085000-76086400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:76085000-76086400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:76085000-76087800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:76085400-76087000	Enhancers	NHDF-Ad	bronchial
16	chr12:76085400-76087400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:76085800-76086400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:76085800-76086400	Enhancers	HMEC	breast
19	chr12:76085800-76086400	ZNF genes & repeats	NHEK	skin
20	chr12:76085800-76086800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:76086000-76086200	Genic enhancers	NHLF	lung

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