Variant report

Variant	rs7315080
Chromosome Location	chr12:26137580-26137581
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	chr12:26110616..26112920-chr12:26135351..26139719,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246695	Chromatin interaction
ENSG00000123094	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10842639	0.82[EUR][1000 genomes]
rs1167633	0.82[EUR][1000 genomes]
rs11834328	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11836294	1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs11836838	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12304002	0.82[JPT][hapmap]
rs16929800	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929807	1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs16929810	1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs16929901	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16929935	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs16929938	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs16929948	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs16929953	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs16930044	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1986803	0.82[EUR][1000 genomes]
rs3741545	0.88[EUR][1000 genomes]
rs706515	0.82[EUR][1000 genomes]
rs706517	0.91[EUR][1000 genomes]
rs7310724	1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs7972830	0.88[EUR][1000 genomes]
rs931583	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv522351	chr12:26127230-26149703	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
2	chr12:26124400-26138000	Weak transcription	Fetal Intestine Large	intestine
3	chr12:26125000-26138600	Weak transcription	Pancreas	Pancrea
4	chr12:26129400-26139400	Weak transcription	Right Ventricle	heart
5	chr12:26129800-26143000	Enhancers	Colon Smooth Muscle	Colon
6	chr12:26131000-26138000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:26131000-26139200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:26131000-26145400	Weak transcription	Lung	lung
9	chr12:26131000-26146000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:26131000-26146200	Weak transcription	HSMM	muscle
11	chr12:26132400-26137800	Weak transcription	Brain Angular Gyrus	brain
12	chr12:26132400-26141600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:26132400-26146800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:26132800-26137800	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:26132800-26137800	Weak transcription	Fetal Lung	lung
16	chr12:26132800-26138000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:26132800-26138000	Weak transcription	Brain Substantia Nigra	brain
18	chr12:26132800-26138200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:26133000-26137600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:26133000-26137600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:26133000-26137800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:26133000-26137800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:26133000-26137800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:26133000-26138000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:26133000-26139200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:26133000-26144600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:26133000-26144600	Weak transcription	HMEC	breast
28	chr12:26133000-26144600	Weak transcription	NHEK	skin
29	chr12:26133000-26145200	Weak transcription	NH-A	brain
30	chr12:26133000-26145200	Weak transcription	Osteobl	bone
31	chr12:26133200-26138000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:26133200-26138200	Weak transcription	Brain Anterior Caudate	brain
33	chr12:26133600-26138000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:26134200-26138200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:26134200-26148000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:26134400-26138000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:26134400-26141600	Weak transcription	NHDF-Ad	bronchial
38	chr12:26134400-26145400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:26134400-26145400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:26134400-26147800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:26134600-26138000	Weak transcription	Aorta	Aorta
42	chr12:26134600-26139000	Weak transcription	Right Atrium	heart
43	chr12:26134800-26138000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:26135400-26137800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:26135400-26138000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:26135600-26137600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:26135600-26138800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:26135600-26139400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:26135800-26137600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:26135800-26138200	Enhancers	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links