Variant report

Variant	rs7600882
Chromosome Location	chr2:47132945-47132946
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47127542..47131326-chr2:47131677..47134825,5	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10205749	0.96[ASN][1000 genomes]
rs12467136	0.96[ASN][1000 genomes]
rs6727958	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7593181	0.91[ASN][1000 genomes]
rs9973623	0.93[ASN][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47116000-47133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:47116200-47133000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:47117400-47133200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:47119600-47140800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:47120000-47133200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:47120800-47133000	Weak transcription	Pancreas	Pancrea
7	chr2:47125400-47133000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:47125800-47133200	Weak transcription	Spleen	Spleen
9	chr2:47126000-47133200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:47126000-47137000	Weak transcription	Right Atrium	heart
11	chr2:47127200-47133200	Weak transcription	Brain Germinal Matrix	brain
12	chr2:47127600-47134600	Weak transcription	Fetal Brain Male	brain
13	chr2:47128200-47138600	Strong transcription	Fetal Thymus	thymus
14	chr2:47128600-47133200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:47129200-47133200	Weak transcription	Ovary	ovary
16	chr2:47129400-47140200	Strong transcription	Placenta	Placenta
17	chr2:47129600-47133000	Weak transcription	Gastric	stomach
18	chr2:47129600-47137000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:47129800-47135200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:47129800-47136200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:47129800-47136400	Strong transcription	Osteobl	bone
22	chr2:47130000-47133000	Weak transcription	HSMMtube	muscle
23	chr2:47130000-47133400	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:47130200-47136000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:47130200-47137200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:47130400-47133000	Weak transcription	Brain Substantia Nigra	brain
27	chr2:47130600-47133000	Weak transcription	Fetal Heart	heart
28	chr2:47130600-47133200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:47130600-47134000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:47130600-47134000	Weak transcription	Fetal Kidney	kidney
31	chr2:47130600-47140800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:47130800-47133000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:47130800-47136000	Strong transcription	Left Ventricle	heart
34	chr2:47130800-47136800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:47131000-47133200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:47131000-47134000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:47131000-47136000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:47131000-47136000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:47131000-47136000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:47131000-47136000	Strong transcription	NH-A	brain
41	chr2:47131000-47136200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:47131000-47136400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr2:47131000-47136600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:47131000-47136600	Weak transcription	Stomach Mucosa	stomach
45	chr2:47131000-47138400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:47131000-47139800	Strong transcription	Thymus	Thymus
47	chr2:47131000-47140000	Strong transcription	Fetal Intestine Large	intestine
48	chr2:47131000-47140200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:47131000-47140400	Strong transcription	Fetal Stomach	stomach
50	chr2:47131000-47140600	Strong transcription	Fetal Intestine Small	intestine

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