Variant report

Variant	rs7590079
Chromosome Location	chr2:153369079-153369080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153362103..153364845-chr2:153366999..153369468,2	K562	blood:
2	chr2:153361979..153364845-chr2:153366999..153370828,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10166703	0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs10173398	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10193625	0.80[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10195380	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10432494	0.90[ASN][1000 genomes]
rs11892232	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11892859	0.93[ASN][1000 genomes]
rs11893683	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12614608	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12617686	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12623070	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2068886	0.80[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2346204	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2881336	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4146259	0.82[CEU][hapmap]
rs4471845	0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs4613221	0.92[ASN][1000 genomes]
rs6434059	0.81[CEU][hapmap]
rs6434078	0.82[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs6721741	0.81[JPT][hapmap]
rs6736639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6737006	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7425826	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7606592	0.82[CEU][hapmap]
rs9288103	1.00[JPT][hapmap];0.90[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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153348800-153370200	Weak transcription	Aorta	Aorta
2	chr2:153357400-153375200	Weak transcription	Right Atrium	heart
3	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:153361600-153369800	Weak transcription	NHDF-Ad	bronchial
5	chr2:153362400-153379400	Weak transcription	Fetal Brain Male	brain
6	chr2:153363800-153369800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:153364200-153369600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:153364200-153369800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:153365000-153377600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:153365200-153369800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:153365400-153369400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:153365400-153369800	Weak transcription	HSMM	muscle
13	chr2:153365400-153370400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:153365400-153377200	Weak transcription	Small Intestine	intestine
15	chr2:153365600-153369200	Weak transcription	Brain Angular Gyrus	brain
16	chr2:153365600-153369200	Weak transcription	Hela-S3	cervix
17	chr2:153365600-153369400	Weak transcription	HMEC	breast
18	chr2:153365600-153369400	Weak transcription	HUVEC	blood vessel
19	chr2:153365600-153369400	Weak transcription	Osteobl	bone
20	chr2:153365600-153369600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:153365600-153369800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:153365600-153370200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:153365600-153370200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:153365600-153370200	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:153365600-153375200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:153365600-153386000	Weak transcription	Fetal Stomach	stomach
27	chr2:153365800-153369600	Weak transcription	Brain Anterior Caudate	brain
28	chr2:153365800-153369600	Weak transcription	NH-A	brain
29	chr2:153365800-153369800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:153367000-153370200	Enhancers	Brain Hippocampus Middle	brain
31	chr2:153368200-153369200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:153368200-153369800	Enhancers	A549	lung
33	chr2:153368200-153370800	Enhancers	NHEK	skin
34	chr2:153368400-153374600	Enhancers	Brain Substantia Nigra	brain
35	chr2:153368600-153369400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:153368600-153375200	Enhancers	Brain Cingulate Gyrus	brain
37	chr2:153368800-153369200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:153368800-153370400	Weak transcription	Psoas Muscle	Psoas
39	chr2:153369000-153369400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:153369000-153369400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:153369000-153370800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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