Variant report

Variant	rs9321431
Chromosome Location	chr6:134566672-134566673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:134564852..134567842-chr6:134570433..134573007,2	K562	blood:
2	chr6:134564852..134569014-chr6:134570433..134573870,3	K562	blood:

Variant related genes	Relation type
ENSG00000118515	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1626488	0.92[ASN][1000 genomes]
rs17063522	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17063538	1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1763499	1.00[JPT][hapmap]
rs58598912	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60742092	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73560862	0.92[ASN][1000 genomes]
rs73560865	0.92[ASN][1000 genomes]
rs73562927	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9483664	0.92[ASN][1000 genomes]
rs9493858	1.00[JPT][hapmap]
rs9493867	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9493868	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493870	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493871	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492292	chr6:134464255-135028540	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1026369	chr6:134468470-135122264	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv538444	chr6:134468470-135122264	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
4	nsv1018677	chr6:134512542-134638259	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv538445	chr6:134512542-134638259	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1023931	chr6:134512542-134668702	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv538446	chr6:134512542-134668702	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134557800-134571000	Weak transcription	NH-A	brain
2	chr6:134561000-134569600	Weak transcription	Ovary	ovary
3	chr6:134561200-134568200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:134561200-134568400	Weak transcription	Brain Substantia Nigra	brain
5	chr6:134561200-134568400	Weak transcription	Esophagus	oesophagus
6	chr6:134561800-134568200	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:134562400-134567800	Weak transcription	HepG2	liver
8	chr6:134562600-134567800	Weak transcription	Thymus	Thymus
9	chr6:134562600-134569400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:134562600-134570600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:134562600-134574600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:134562800-134568600	Weak transcription	Brain Anterior Caudate	brain
13	chr6:134563800-134566800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:134566000-134571400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:134566200-134568000	Enhancers	Primary T cells from cord blood	blood
16	chr6:134566200-134568200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr6:134566200-134568200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr6:134566200-134568200	Enhancers	Fetal Thymus	thymus
19	chr6:134566200-134568600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:134566200-134568800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr6:134566200-134568800	Enhancers	NHEK	skin
22	chr6:134566200-134569000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:134566200-134569000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:134566200-134569000	Enhancers	HMEC	breast
25	chr6:134566200-134570800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:134566200-134571200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr6:134566200-134572200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr6:134566200-134572200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:134566200-134572200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr6:134566200-134572200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr6:134566200-134572800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr6:134566400-134566800	Enhancers	A549	lung
33	chr6:134566400-134567800	Weak transcription	Pancreas	Pancrea
34	chr6:134566400-134568000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr6:134566400-134569400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr6:134566400-134570400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:134566600-134567000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:134566600-134567000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:134566600-134567000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:134566600-134568200	Enhancers	GM12878-XiMat	blood
41	chr6:134566600-134568200	Weak transcription	Hela-S3	cervix
42	chr6:134566600-134568800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr6:134566600-134571000	Enhancers	Primary B cells from peripheral blood	blood
44	chr6:134566600-134571600	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links