Variant report

Variant	rs1281110
Chromosome Location	chr4:8187442-8187443
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8181018..8183687-chr4:8185277..8188138,2	MCF-7	breast:
2	chr4:8185955..8187715-chr4:8189243..8191885,3	MCF-7	breast:
3	chr4:8178129..8181116-chr4:8187357..8190314,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1078861	0.83[CHB][hapmap]
rs11933526	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1281122	0.81[CEU][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap]
rs28570403	0.86[ASN][1000 genomes]
rs55909383	0.87[ASN][1000 genomes]
rs56208304	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs753386	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs753959	0.80[CHB][hapmap]
rs7677412	0.83[CHB][hapmap]

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:52 , 50 per page) page: 1 2

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	chr4:8182200-8187800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:8182400-8189800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:8183400-8188000	Enhancers	HMEC	breast
6	chr4:8183600-8188200	Enhancers	Adipose Nuclei	Adipose
7	chr4:8183800-8188200	Enhancers	NHEK	skin
8	chr4:8184200-8190400	Weak transcription	Liver	Liver
9	chr4:8185000-8188800	Weak transcription	Colonic Mucosa	Colon
10	chr4:8185200-8188200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:8185200-8188600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:8185200-8189000	Weak transcription	Gastric	stomach
13	chr4:8185200-8190000	Weak transcription	Pancreas	Pancrea
14	chr4:8185200-8190200	Weak transcription	Right Atrium	heart
15	chr4:8185200-8202600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:8185400-8187600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:8185400-8190600	Weak transcription	Fetal Heart	heart
18	chr4:8185600-8189600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:8185600-8190000	Weak transcription	Lung	lung
20	chr4:8185600-8192800	Weak transcription	HSMMtube	muscle
21	chr4:8186000-8189600	Weak transcription	HUVEC	blood vessel
22	chr4:8186200-8190000	Weak transcription	Esophagus	oesophagus
23	chr4:8186200-8190000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:8186200-8191200	Enhancers	Hela-S3	cervix
25	chr4:8186400-8187800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:8186400-8189800	Weak transcription	Left Ventricle	heart
27	chr4:8186400-8189800	Weak transcription	Right Ventricle	heart
28	chr4:8186800-8188200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:8186800-8188200	Enhancers	HSMM	muscle
30	chr4:8187000-8187600	Enhancers	Fetal Intestine Large	intestine
31	chr4:8187000-8187800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:8187000-8187800	Bivalent Enhancer	Placenta	Placenta
33	chr4:8187000-8188200	Enhancers	NH-A	brain
34	chr4:8187000-8188800	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr4:8187200-8187600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:8187200-8187600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:8187200-8187600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr4:8187200-8187600	Flanking Active TSS	Osteobl	bone
39	chr4:8187200-8187800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:8187200-8187800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:8187200-8187800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr4:8187200-8187800	Enhancers	NHLF	lung
43	chr4:8187200-8188000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:8187200-8188200	Flanking Active TSS	NHDF-Ad	bronchial
45	chr4:8187200-8188400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:8187400-8187600	Enhancers	Fetal Lung	lung
47	chr4:8187400-8187600	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr4:8187400-8187800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:8187400-8187800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:8187400-8187800	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links