Variant report

Variant	rs4930401
Chromosome Location	chr11:66736131-66736132
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	chr11:66728931..66731296-chr11:66735648..66738246,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10791895	0.96[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs11227627	0.82[EUR][1000 genomes]
rs11227643	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs1253439	0.94[CHB][hapmap]
rs1253440	0.80[CHB][hapmap]
rs1892928	0.80[CHB][hapmap]
rs4307728	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4930395	0.83[EUR][1000 genomes]
rs56016006	0.82[ASN][1000 genomes]
rs7108388	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs7942348	0.84[EUR][1000 genomes]
rs896436	0.80[CHB][hapmap]

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	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
5	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 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	chr11:66726800-66737200	Weak transcription	HSMMtube	muscle
2	chr11:66726800-66737600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:66727200-66738000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:66732800-66738600	Weak transcription	Placenta	Placenta
5	chr11:66732800-66738600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:66733600-66738000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:66734200-66738000	Weak transcription	K562	blood
8	chr11:66734600-66737800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:66734600-66738000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:66734800-66737600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:66734800-66738000	Enhancers	NHLF	lung
12	chr11:66734800-66739800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:66734800-66739800	Enhancers	HMEC	breast
14	chr11:66735000-66736600	Enhancers	HUVEC	blood vessel
15	chr11:66735000-66737200	Enhancers	Osteobl	bone
16	chr11:66735000-66738600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:66735000-66739800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:66735200-66736400	Enhancers	Adipose Nuclei	Adipose
19	chr11:66735200-66737800	Enhancers	NHDF-Ad	bronchial
20	chr11:66735200-66738000	Enhancers	NH-A	brain
21	chr11:66735400-66737400	Enhancers	A549	lung
22	chr11:66735600-66737200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:66735600-66737200	Enhancers	Hela-S3	cervix
24	chr11:66735600-66737400	Weak transcription	Liver	Liver
25	chr11:66735600-66738600	Weak transcription	Esophagus	oesophagus
26	chr11:66735600-66738600	Weak transcription	Lung	lung
27	chr11:66735800-66736800	Weak transcription	HSMM	muscle
28	chr11:66735800-66737000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:66735800-66737000	Weak transcription	Fetal Intestine Small	intestine
30	chr11:66735800-66737200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:66735800-66737400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:66735800-66737400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr11:66735800-66737800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:66735800-66738600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:66736000-66737000	Weak transcription	Fetal Intestine Large	intestine
36	chr11:66736000-66737200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:66736000-66737200	Weak transcription	HepG2	liver
38	chr11:66736000-66737400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr11:66736000-66737400	Weak transcription	Small Intestine	intestine
40	chr11:66736000-66737600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:66736000-66738000	Weak transcription	Stomach Mucosa	stomach
42	chr11:66736000-66738000	Enhancers	NHEK	skin
43	chr11:66736000-66738800	Weak transcription	Colonic Mucosa	Colon

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