Variant report

Variant	rs12191694
Chromosome Location	chr6:74783711-74783712
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12190633	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12192587	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12196321	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12207763	0.85[EUR][1000 genomes]
rs12208415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213134	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12213921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55646316	1.00[AFR][1000 genomes]
rs72949471	1.00[AFR][1000 genomes]
rs72952354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72953230	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72953279	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72955120	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955121	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955125	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955129	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955133	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955136	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955140	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965241	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030389	chr6:74606701-74811706	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3394316	chr6:74630005-74935625	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv603733	chr6:74666559-74944460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3327625	chr6:74716120-74971605	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3440413	chr6:74741688-74791357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv886161	chr6:74765488-74800529	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1017333	chr6:74776830-74907758	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv538307	chr6:74776830-74907758	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74782800-74783800	Enhancers	Fetal Intestine Small	intestine
2	chr6:74782800-74784200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:74782800-74784200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:74782800-74784200	Enhancers	NHLF	lung
5	chr6:74782800-74784400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:74782800-74784600	Enhancers	Fetal Muscle Leg	muscle
7	chr6:74782800-74784600	Enhancers	Fetal Stomach	stomach
8	chr6:74782800-74784800	Enhancers	Osteobl	bone
9	chr6:74782800-74785400	Enhancers	NHEK	skin
10	chr6:74782800-74785800	Enhancers	NHDF-Ad	bronchial
11	chr6:74782800-74786000	Enhancers	Colon Smooth Muscle	Colon
12	chr6:74782800-74786000	Enhancers	HMEC	breast
13	chr6:74782800-74786200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:74783000-74784200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:74783000-74785400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:74783000-74785600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:74783000-74786000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:74783200-74784200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr6:74783200-74784600	Enhancers	Rectal Smooth Muscle	rectum
20	chr6:74783200-74784600	Enhancers	Stomach Smooth Muscle	stomach
21	chr6:74783600-74783800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:74783600-74783800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:74783600-74784000	Enhancers	NH-A	brain

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