Variant report

Variant	rs7582121
Chromosome Location	chr2:182819762-182819763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182755199..182758124-chr2:182816359..182820685,4	MCF-7	breast:
2	chr2:182754564..182757383-chr2:182817160..182819836,2	K562	blood:
3	chr2:182819036..182820920-chr2:182951975..182953490,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260742	Chromatin interaction
ENSG00000138434	Chromatin interaction
ENSG00000265129	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10169250	1.00[EUR][1000 genomes]
rs11885643	1.00[EUR][1000 genomes]
rs13384259	1.00[EUR][1000 genomes]
rs13395564	1.00[EUR][1000 genomes]
rs6433942	1.00[EUR][1000 genomes]
rs6741761	1.00[EUR][1000 genomes]
rs6757190	1.00[EUR][1000 genomes]
rs964700	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182815600-182820600	Enhancers	Hela-S3	cervix
2	chr2:182818000-182820400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr2:182818600-182819800	Flanking Active TSS	HUVEC	blood vessel
4	chr2:182818600-182820400	Flanking Active TSS	Dnd41	blood
5	chr2:182818600-182820400	Enhancers	HMEC	breast
6	chr2:182818800-182820400	Enhancers	Stomach Mucosa	stomach
7	chr2:182818800-182820400	Active TSS	Thymus	Thymus
8	chr2:182819000-182819800	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr2:182819000-182820000	Active TSS	HepG2	liver
10	chr2:182819200-182819800	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr2:182819200-182819800	Enhancers	Fetal Stomach	stomach
12	chr2:182819200-182819800	Enhancers	Small Intestine	intestine
13	chr2:182819200-182819800	Flanking Active TSS	A549	lung
14	chr2:182819200-182819800	Flanking Active TSS	NH-A	brain
15	chr2:182819200-182819800	Flanking Active TSS	NHEK	skin
16	chr2:182819200-182820200	Enhancers	HSMM	muscle
17	chr2:182819200-182820400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:182819200-182822400	Weak transcription	Pancreas	Pancrea
19	chr2:182819200-182822600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:182819200-182822600	Weak transcription	Fetal Intestine Small	intestine
21	chr2:182819200-182828200	Weak transcription	Right Atrium	heart
22	chr2:182819400-182819800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:182819400-182819800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:182819400-182819800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:182819400-182819800	Flanking Active TSS	Fetal Thymus	thymus
26	chr2:182819400-182819800	Enhancers	Stomach Smooth Muscle	stomach
27	chr2:182819400-182820200	Flanking Active TSS	Liver	Liver
28	chr2:182819400-182820400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:182819400-182820400	Enhancers	Osteobl	bone
30	chr2:182819400-182820600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:182819400-182822400	Weak transcription	Fetal Intestine Large	intestine
32	chr2:182819400-182822800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:182819400-182823000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:182819600-182819800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:182819600-182819800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:182819600-182819800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:182819600-182819800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:182819600-182820000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:182819600-182820000	Enhancers	NHLF	lung
40	chr2:182819600-182820200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:182819600-182820200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:182819600-182820400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:182819600-182820600	Enhancers	NHDF-Ad	bronchial
44	chr2:182819600-182825800	Weak transcription	Fetal Heart	heart

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