Variant report

Variant	rs12191635
Chromosome Location	chr6:143001765-143001766
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12195351	1.00[ASN][1000 genomes]
rs12195495	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17071952	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35024907	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57559259	0.97[EUR][1000 genomes]
rs61290118	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62429468	1.00[ASN][1000 genomes]
rs62429474	1.00[ASN][1000 genomes]
rs6933793	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830827	chr6:142840734-143015005	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830828	chr6:142970134-143116517	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142998200-143008200	Weak transcription	Fetal Stomach	stomach
2	chr6:142999200-143006000	Weak transcription	Fetal Lung	lung
3	chr6:142999400-143007800	Enhancers	Fetal Brain Male	brain
4	chr6:143000000-143002400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr6:143000000-143002600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr6:143000200-143002600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr6:143000600-143002400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:143000600-143002400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr6:143000800-143002600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr6:143001000-143002200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:143001000-143002800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:143001000-143002800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:143001200-143002000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr6:143001200-143002000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:143001400-143001800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:143001400-143001800	Enhancers	NH-A	brain
17	chr6:143001400-143002000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:143001400-143002000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:143001400-143002000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:143001400-143002000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:143001400-143002000	Enhancers	Aorta	Aorta
22	chr6:143001400-143002000	Enhancers	NHEK	skin
23	chr6:143001400-143002000	Enhancers	Osteobl	bone
24	chr6:143001400-143002400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr6:143001600-143001800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:143001600-143001800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:143001600-143001800	Enhancers	Brain Substantia Nigra	brain
28	chr6:143001600-143003600	Enhancers	Fetal Brain Female	brain
29	chr6:143001600-143004200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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