Variant report

Variant	rs11096624
Chromosome Location	chr2:20063586-20063587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:19968930..19969804-chr2:20062834..20063763,3	MCF-7	breast:
2	chr2:18663724..18664634-chr2:20062948..20063698,3	MCF-7	breast:
3	chr2:19592208..19593951-chr2:20061932..20064637,2	MCF-7	breast:
4	chr2:19562452..19563244-chr2:20062794..20063614,2	K562	blood:
5	chr2:18616431..18616984-chr2:20063230..20063754,2	K562	blood:
6	chr2:20063399..20066786-chr2:20072740..20074746,3	K562	blood:
7	chr2:18701353..18702868-chr2:20062861..20063796,5	K562	blood:
8	chr2:18568690..18569227-chr2:20063102..20063706,2	MCF-7	breast:
9	chr2:20060793..20063745-chr2:20067045..20068888,2	MCF-7	breast:
10	chr2:20063170..20065730-chr2:20100500..20102018,2	MCF-7	breast:
11	chr2:19568949..19569749-chr2:20062849..20063723,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228784	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000183891	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11676372	0.86[JPT][hapmap]
rs7566500	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs7570541	0.87[JPT][hapmap]
rs7578460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7595902	0.87[JPT][hapmap]
rs7608279	0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873711	chr2:19950864-20073860	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv873712	chr2:19955245-20131079	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv873713	chr2:19955245-20144372	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv455819	chr2:19987440-20095690	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv581155	chr2:19987440-20095690	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv873714	chr2:20019616-20113088	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv873715	chr2:20059323-20144372	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20060600-20065200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:20062200-20066600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:20062200-20068200	Weak transcription	NHDF-Ad	bronchial
4	chr2:20062400-20063800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr2:20063000-20063600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:20063000-20063600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:20063000-20063600	Enhancers	Placenta	Placenta
8	chr2:20063000-20063600	Enhancers	Lung	lung
9	chr2:20063000-20063600	Active TSS	Osteobl	bone
10	chr2:20063000-20063800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr2:20063000-20063800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr2:20063000-20063800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr2:20063000-20063800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:20063000-20063800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:20063000-20063800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:20063000-20063800	Enhancers	Esophagus	oesophagus
17	chr2:20063000-20063800	Enhancers	Pancreas	Pancrea
18	chr2:20063000-20065200	Enhancers	Fetal Thymus	thymus
19	chr2:20063000-20065600	Enhancers	GM12878-XiMat	blood
20	chr2:20063200-20063600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:20063200-20063600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:20063200-20063600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr2:20063200-20063600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:20063200-20063600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:20063200-20063600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr2:20063200-20063600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr2:20063200-20063600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr2:20063200-20063600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr2:20063200-20063600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:20063200-20063600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:20063200-20063600	Active TSS	Fetal Brain Female	brain
32	chr2:20063200-20063800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr2:20063200-20063800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:20063200-20063800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:20063200-20063800	Enhancers	Brain Anterior Caudate	brain
36	chr2:20063200-20063800	Enhancers	Brain Germinal Matrix	brain
37	chr2:20063200-20063800	Enhancers	Gastric	stomach
38	chr2:20063200-20063800	Enhancers	Ovary	ovary
39	chr2:20063200-20063800	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr2:20063400-20063600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr2:20063400-20063600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:20063400-20063600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:20063400-20063600	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr2:20063400-20063600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:20063400-20063600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:20063400-20063600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:20063400-20063600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:20063400-20063600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:20063400-20063600	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr2:20063400-20063600	Active TSS	Brain Cingulate Gyrus	brain

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