Variant report

Variant	rs7309950
Chromosome Location	chr12:76085242-76085243
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10785202	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10785206	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785207	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11180648	0.86[AMR][1000 genomes]
rs12304941	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309589	0.82[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422374	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424870	0.82[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882020	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1920415	0.98[ASN][1000 genomes]
rs4300421	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4578425	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59472164	0.86[AMR][1000 genomes]
rs6582296	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7295963	0.82[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310061	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73363702	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7959975	0.85[CEU][hapmap];0.96[ASN][1000 genomes]
rs7960787	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs7964632	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7980070	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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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