Variant report

Variant	rs56947653
Chromosome Location	chr11:8929423-8929424
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8922103..8924731-chr11:8927642..8930308,2	K562	blood:
2	chr11:8709093..8712035-chr11:8927581..8930062,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11042113	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1432117	0.84[ASN][1000 genomes]
rs1432118	0.84[ASN][1000 genomes]
rs16906027	1.00[EUR][1000 genomes]
rs2116513	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2163627	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2436176	0.88[ASN][1000 genomes]
rs2568022	0.84[ASN][1000 genomes]
rs2568040	0.93[ASN][1000 genomes]
rs2568067	0.93[ASN][1000 genomes]
rs2568073	0.95[ASN][1000 genomes]
rs2568076	1.00[ASN][1000 genomes]
rs2568084	0.86[ASN][1000 genomes]
rs2653572	0.84[ASN][1000 genomes]
rs2653599	1.00[ASN][1000 genomes]
rs2653617	0.93[ASN][1000 genomes]
rs2742481	0.84[ASN][1000 genomes]
rs2742490	0.83[ASN][1000 genomes]
rs2742492	0.90[ASN][1000 genomes]
rs2742506	0.95[ASN][1000 genomes]
rs2742509	0.95[ASN][1000 genomes]
rs2742522	0.98[ASN][1000 genomes]
rs4061641	1.00[EUR][1000 genomes]
rs4910179	0.93[ASN][1000 genomes]
rs58094352	1.00[EUR][1000 genomes]
rs58735631	1.00[EUR][1000 genomes]
rs60631733	1.00[EUR][1000 genomes]
rs60719227	1.00[EUR][1000 genomes]
rs7108310	1.00[EUR][1000 genomes]
rs73410050	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8926600-8930000	Enhancers	NHEK	skin
2	chr11:8927200-8931000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:8928600-8929600	Enhancers	Placenta	Placenta
4	chr11:8928800-8930000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:8928800-8930200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:8928800-8930800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:8928800-8931800	Weak transcription	HSMM	muscle
8	chr11:8928800-8931800	Weak transcription	HSMMtube	muscle
9	chr11:8929000-8929600	Weak transcription	A549	lung
10	chr11:8929000-8931200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:8929000-8931200	Weak transcription	NHDF-Ad	bronchial
12	chr11:8929000-8931400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:8929000-8931400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:8929000-8931400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:8929000-8931400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:8929000-8931400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:8929000-8931400	Enhancers	Hela-S3	cervix
18	chr11:8929000-8931400	Weak transcription	HMEC	breast
19	chr11:8929000-8931600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:8929200-8929600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr11:8929200-8930200	Enhancers	Primary B cells from peripheral blood	blood
22	chr11:8929400-8929600	Enhancers	Stomach Mucosa	stomach
23	chr11:8929400-8930800	Weak transcription	Psoas Muscle	Psoas
24	chr11:8929400-8931200	Weak transcription	NH-A	brain
25	chr11:8929400-8931400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:8929400-8931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:8929400-8931600	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links