Variant report

Variant	rs56133240
Chromosome Location	chr1:9478076-9478077
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9477517..9479116-chr1:9481324..9482935,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11121428	1.00[EUR][1000 genomes]
rs11811820	1.00[EUR][1000 genomes]
rs55913306	1.00[EUR][1000 genomes]
rs57585081	1.00[EUR][1000 genomes]
rs60678622	1.00[EUR][1000 genomes]
rs61547143	1.00[EUR][1000 genomes]
rs6701659	1.00[EUR][1000 genomes]
rs72862732	1.00[EUR][1000 genomes]
rs72862734	1.00[EUR][1000 genomes]
rs7354926	1.00[EUR][1000 genomes]
rs74051531	1.00[EUR][1000 genomes]
rs74051533	1.00[EUR][1000 genomes]
rs74051540	1.00[EUR][1000 genomes]
rs74051544	1.00[EUR][1000 genomes]
rs74051646	1.00[EUR][1000 genomes]
rs74051648	1.00[EUR][1000 genomes]
rs74051651	1.00[EUR][1000 genomes]
rs74051652	1.00[EUR][1000 genomes]
rs9662928	1.00[EUR][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	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	nsv1003190	chr1:9382452-9554553	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv534850	chr1:9382452-9554553	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1014975	chr1:9462254-9517118	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv534851	chr1:9462254-9517118	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1006705	chr1:9470745-9512042	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9471000-9479600	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr1:9471400-9488400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:9471600-9488600	Weak transcription	Gastric	stomach
4	chr1:9474200-9488600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:9474600-9483000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:9475000-9478800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:9475000-9488600	Weak transcription	Right Atrium	heart
8	chr1:9475200-9479600	Weak transcription	Adipose Nuclei	Adipose
9	chr1:9476200-9478400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr1:9476400-9478600	Flanking Active TSS	Dnd41	blood
11	chr1:9476400-9478800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:9476400-9481400	Enhancers	GM12878-XiMat	blood
13	chr1:9476400-9488600	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:9476600-9478200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:9476600-9488600	Enhancers	Thymus	Thymus
16	chr1:9476800-9478400	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr1:9476800-9478400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:9476800-9478400	Weak transcription	Right Ventricle	heart
19	chr1:9477000-9478200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr1:9477000-9478200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:9477200-9478200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr1:9477200-9478200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr1:9477200-9478800	Weak transcription	Esophagus	oesophagus
24	chr1:9477200-9479000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:9477400-9479000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:9477600-9478600	Enhancers	Primary B cells from cord blood	blood
27	chr1:9477800-9479000	Weak transcription	Spleen	Spleen
28	chr1:9477800-9482000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr1:9478000-9478200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:9478000-9478400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:9478000-9479200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr1:9478000-9482800	Enhancers	Fetal Thymus	thymus

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