Variant report

Variant	rs56363481
Chromosome Location	chr4:8189740-8189741
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8020965..8023057-chr4:8187753..8190682,2	MCF-7	breast:
2	chr4:8179921..8181904-chr4:8189631..8192248,3	MCF-7	breast:
3	chr4:8182727..8185014-chr4:8188504..8191136,2	MCF-7	breast:
4	chr4:8178129..8181116-chr4:8187357..8190314,2	K562	blood:
5	chr4:8189199..8191768-chr4:8203536..8206206,2	MCF-7	breast:
6	chr4:8185955..8187715-chr4:8189243..8191885,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163995	Chromatin interaction
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs57380207	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8176000-8190200	Weak transcription	Psoas Muscle	Psoas
2	chr4:8179400-8189800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:8182400-8189800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:8184200-8190400	Weak transcription	Liver	Liver
5	chr4:8185200-8190000	Weak transcription	Pancreas	Pancrea
6	chr4:8185200-8190200	Weak transcription	Right Atrium	heart
7	chr4:8185200-8202600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:8185400-8190600	Weak transcription	Fetal Heart	heart
9	chr4:8185600-8190000	Weak transcription	Lung	lung
10	chr4:8185600-8192800	Weak transcription	HSMMtube	muscle
11	chr4:8186200-8190000	Weak transcription	Esophagus	oesophagus
12	chr4:8186200-8190000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:8186200-8191200	Enhancers	Hela-S3	cervix
14	chr4:8186400-8189800	Weak transcription	Left Ventricle	heart
15	chr4:8186400-8189800	Weak transcription	Right Ventricle	heart
16	chr4:8187600-8190800	Enhancers	Osteobl	bone
17	chr4:8187600-8192800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:8187800-8189800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:8187800-8189800	Weak transcription	NHLF	lung
20	chr4:8187800-8190200	Weak transcription	Fetal Thymus	thymus
21	chr4:8187800-8190800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:8187800-8195000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:8188000-8190400	Weak transcription	Spleen	Spleen
24	chr4:8188200-8189800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:8188200-8190000	Weak transcription	Adipose Nuclei	Adipose
26	chr4:8188200-8191800	Enhancers	NHDF-Ad	bronchial
27	chr4:8188200-8192600	Weak transcription	HSMM	muscle
28	chr4:8188200-8192600	Weak transcription	NH-A	brain
29	chr4:8188400-8191400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:8189000-8189800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:8189200-8190800	Enhancers	HepG2	liver
32	chr4:8189200-8193600	Enhancers	Stomach Mucosa	stomach
33	chr4:8189600-8189800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:8189600-8190200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:8189600-8190200	Enhancers	A549	lung
36	chr4:8189600-8190800	Enhancers	HMEC	breast
37	chr4:8189600-8191600	Enhancers	NHEK	skin
38	chr4:8189600-8192000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr4:8189600-8192000	Enhancers	Gastric	stomach
40	chr4:8189600-8192800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:8189600-8193000	Enhancers	Duodenum Mucosa	Duodenum
42	chr4:8189600-8193600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:8189600-8199200	Enhancers	HUVEC	blood vessel

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