Variant report

Variant	rs2283053
Chromosome Location	chr7:116427019-116427020
allele	A/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115890993-115892266..7:116425514-116428491	H1-hESC	embryonic stem cell:	embryo
2	chr7:116308824..116313523-chr7:116420776..116428402,10	MCF-7	breast:
3	chr7:116231332..116232428-chr7:116426776..116427420,4	MCF-7	breast:
4	chr7:116426630..116429182-chr7:116432442..116434146,2	MCF-7	breast:
5	chr7:116231580..116232092-chr7:116426831..116427468,2	MCF-7	breast:
6	chr7:116422429..116424558-chr7:116424968..116427156,2	K562	blood:
7	chr7:116426652..116427174-chr7:116449090..116449983,2	MCF-7	breast:
8	chr7:116310897..116313625-chr7:116424372..116428199,3	MCF-7	breast:
9	chr7:116311025..116312447-chr7:116426117..116427365,14	MCF-7	breast:
10	chr7:116311452..116312561-chr7:116426406..116427450,6	MCF-7	breast:
11	chr7:116422162..116423929-chr7:116425324..116427156,2	K562	blood:
12	chr7:116237984..116238913-chr7:116426576..116427380,3	MCF-7	breast:
13	chr7:116404958..116406841-chr7:116425524..116427438,2	MCF-7	breast:
14	chr7:116238091..116239003-chr7:116426048..116427075,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction
ENSG00000105976	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10243024	0.84[JPT][hapmap]
rs13223756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13239139	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1476454	0.81[ASN][1000 genomes]
rs2073560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2299440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402120	0.93[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34280975	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34525404	0.81[EUR][1000 genomes]
rs34630907	0.81[EUR][1000 genomes]
rs35099490	0.81[EUR][1000 genomes]
rs35314984	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35590186	0.82[ASN][1000 genomes]
rs35678938	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35685346	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35939549	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801997	0.93[CEU][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3807997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807999	1.00[ASW][hapmap]
rs62470772	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116418000-116437600	Weak transcription	Spleen	Spleen
2	chr7:116419600-116429200	Weak transcription	Fetal Brain Male	brain
3	chr7:116421800-116428400	Weak transcription	Lung	lung
4	chr7:116421800-116435800	Weak transcription	Aorta	Aorta
5	chr7:116421800-116444000	Weak transcription	Esophagus	oesophagus
6	chr7:116422000-116435800	Weak transcription	Placenta	Placenta
7	chr7:116423000-116427200	Weak transcription	Brain Substantia Nigra	brain
8	chr7:116423000-116428000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:116423000-116428600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:116423000-116431400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:116423000-116439000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:116423000-116442600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:116423200-116430800	Strong transcription	HMEC	breast
14	chr7:116423200-116431000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:116423200-116432200	Strong transcription	NHEK	skin
16	chr7:116423200-116435800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:116423200-116438000	Weak transcription	Adipose Nuclei	Adipose
18	chr7:116423400-116432600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:116423600-116431000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:116423800-116427400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:116423800-116427800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr7:116424000-116428400	Weak transcription	Fetal Lung	lung
23	chr7:116424000-116440800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:116424200-116432600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:116424200-116440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:116424200-116445400	Weak transcription	Left Ventricle	heart
27	chr7:116424400-116434400	Weak transcription	Hela-S3	cervix
28	chr7:116424600-116434400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:116424800-116428600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:116425000-116440800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:116425200-116428400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:116425800-116429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:116425800-116435600	Weak transcription	Fetal Stomach	stomach
34	chr7:116426000-116428800	Weak transcription	NH-A	brain
35	chr7:116426200-116427400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:116426200-116440800	Weak transcription	HSMMtube	muscle
37	chr7:116426400-116427200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:116426400-116427200	Genic enhancers	Muscle Satellite Cultured Cells	--
39	chr7:116426400-116427200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr7:116426400-116427200	Genic enhancers	A549	lung
41	chr7:116426400-116427400	Enhancers	Duodenum Mucosa	Duodenum
42	chr7:116426400-116427400	Enhancers	HUVEC	blood vessel
43	chr7:116426400-116427600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr7:116426400-116429800	Enhancers	Liver	Liver
45	chr7:116426400-116434400	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:116426600-116427200	Enhancers	Osteobl	bone
47	chr7:116426600-116427400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr7:116426600-116427400	Enhancers	Stomach Mucosa	stomach
49	chr7:116426600-116427400	Genic enhancers	HSMM	muscle
50	chr7:116426600-116427600	Enhancers	Primary B cells from peripheral blood	blood

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