Variant report

Variant	rs12757436
Chromosome Location	chr1:221631938-221631939
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11118738	0.80[JPT][hapmap]
rs11118740	0.81[JPT][hapmap]
rs12030169	0.93[AFR][1000 genomes]
rs12038764	0.93[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12039408	0.93[AFR][1000 genomes]
rs12041783	0.93[AFR][1000 genomes]
rs12046746	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17010060	0.81[ASN][1000 genomes]
rs1903138	0.93[AFR][1000 genomes]
rs1903139	0.90[JPT][hapmap];0.93[AFR][1000 genomes]
rs34525999	0.93[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs59313526	0.93[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6657854	0.81[ASN][1000 genomes]
rs72629676	0.93[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7544629	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221615600-221635000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:221629800-221633200	Enhancers	Fetal Lung	lung
3	chr1:221630600-221632200	Enhancers	Fetal Muscle Leg	muscle
4	chr1:221631000-221632200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:221631000-221632200	Enhancers	Osteobl	bone
6	chr1:221631000-221632400	Enhancers	Fetal Stomach	stomach
7	chr1:221631000-221632400	Enhancers	HSMMtube	muscle
8	chr1:221631000-221632400	Enhancers	NHLF	lung
9	chr1:221631000-221632600	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:221631000-221632600	Enhancers	Hela-S3	cervix
11	chr1:221631000-221632600	Enhancers	HSMM	muscle
12	chr1:221631000-221632800	Enhancers	Colon Smooth Muscle	Colon
13	chr1:221631400-221632200	Active TSS	Stomach Smooth Muscle	stomach
14	chr1:221631400-221632600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:221631600-221632000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:221631600-221632000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:221631600-221632400	Flanking Active TSS	NHDF-Ad	bronchial
18	chr1:221631600-221632600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:221631600-221632600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:221631800-221632000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:221631800-221632000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:221631800-221632000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr1:221631800-221632200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:221631800-221632200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr1:221631800-221632600	Enhancers	Adipose Nuclei	Adipose
26	chr1:221631800-221632600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr1:221631800-221632600	Enhancers	Fetal Kidney	kidney
28	chr1:221631800-221634400	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links