Variant report

Variant	rs7590169
Chromosome Location	chr2:40715728-40715729
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40715138..40715797-chr2:40986899..40987522,3	MCF-7	breast:
2	chr2:40715014..40715835-chr2:40781871..40782590,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10164458	0.82[JPT][hapmap]
rs10200636	0.92[ASN][1000 genomes]
rs10205402	0.80[ASN][1000 genomes]
rs12471532	0.86[ASN][1000 genomes]
rs2193568	0.80[ASN][1000 genomes]
rs4952414	0.82[JPT][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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40703600-40716400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:40708000-40716000	Weak transcription	Psoas Muscle	Psoas
3	chr2:40711600-40716200	Weak transcription	Left Ventricle	heart
4	chr2:40712000-40716000	Weak transcription	Aorta	Aorta
5	chr2:40712400-40716400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr2:40714200-40716000	Flanking Active TSS	Fetal Heart	heart
7	chr2:40714600-40715800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:40714800-40715800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:40714800-40716200	Enhancers	HSMM	muscle
10	chr2:40714800-40716400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:40714800-40716400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:40714800-40716400	Enhancers	Fetal Kidney	kidney
13	chr2:40714800-40717200	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:40715000-40715800	Enhancers	NH-A	brain
15	chr2:40715000-40716000	Enhancers	Dnd41	blood
16	chr2:40715000-40716200	Enhancers	Fetal Intestine Small	intestine
17	chr2:40715000-40716400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:40715000-40716400	Enhancers	Brain Angular Gyrus	brain
19	chr2:40715200-40715800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:40715400-40715800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:40715400-40715800	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr2:40715400-40715800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr2:40715400-40715800	Enhancers	Fetal Brain Male	brain
24	chr2:40715400-40715800	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr2:40715400-40715800	Enhancers	HMEC	breast
26	chr2:40715400-40715800	Flanking Active TSS	NHDF-Ad	bronchial
27	chr2:40715400-40715800	Flanking Active TSS	NHLF	lung
28	chr2:40715400-40716000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:40715400-40716000	Active TSS	Adipose Nuclei	Adipose
30	chr2:40715400-40716000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:40715400-40716000	Enhancers	HepG2	liver
32	chr2:40715400-40716200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:40715400-40716400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:40715400-40716400	Enhancers	Primary B cells from cord blood	blood
35	chr2:40715400-40716400	Enhancers	Fetal Lung	lung
36	chr2:40715400-40716400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr2:40715400-40716400	Enhancers	HSMMtube	muscle
38	chr2:40715400-40716400	Enhancers	Osteobl	bone
39	chr2:40715400-40716600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:40715400-40717000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr2:40715600-40715800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:40715600-40715800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:40715600-40715800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr2:40715600-40716000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:40715600-40716000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:40715600-40716000	Enhancers	Ovary	ovary
47	chr2:40715600-40716000	Enhancers	Stomach Mucosa	stomach
48	chr2:40715600-40716000	Enhancers	A549	lung
49	chr2:40715600-40716600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:40715600-40717000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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