Variant report

Variant	rs12145771
Chromosome Location	chr1:85066019-85066020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85065241..85066819-chr1:85068863..85070458,2	K562	blood:
2	chr1:85060422..85063217-chr1:85063481..85066367,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10493752	1.00[JPT][hapmap]
rs11164000	1.00[JPT][hapmap]
rs11164005	1.00[JPT][hapmap]
rs12119873	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12123470	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12127160	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131448	0.94[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12137275	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12141472	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1417295	0.85[EUR][1000 genomes]
rs1517601	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517602	1.00[JPT][hapmap]
rs15911	1.00[JPT][hapmap]
rs1914477	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303307	0.93[CEU][hapmap]
rs2911594	0.92[EUR][1000 genomes]
rs2911597	0.85[EUR][1000 genomes]
rs2911598	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs2911599	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2911607	0.85[EUR][1000 genomes]
rs2911609	0.83[EUR][1000 genomes]
rs2943671	0.85[EUR][1000 genomes]
rs2945143	0.85[EUR][1000 genomes]
rs2945145	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs2945147	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs2994934	0.82[EUR][1000 genomes]
rs2994935	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs2994937	0.85[EUR][1000 genomes]
rs2994938	0.85[EUR][1000 genomes]
rs2994948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4356070	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4907080	1.00[JPT][hapmap]
rs7517756	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85051000-85069800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85062800-85066800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:85064400-85066400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:85064600-85066200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:85064800-85066200	Enhancers	Fetal Heart	heart
6	chr1:85064800-85067000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:85065000-85066400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:85065000-85066400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:85065200-85066200	Enhancers	HSMMtube	muscle
10	chr1:85065600-85066400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:85065600-85066400	Enhancers	Hela-S3	cervix
12	chr1:85065600-85066600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:85065600-85066600	Enhancers	NH-A	brain
14	chr1:85065600-85066800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:85065600-85067000	Enhancers	HUVEC	blood vessel
16	chr1:85065600-85067200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:85065600-85068200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:85065600-85068200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:85065600-85068800	Weak transcription	Brain Angular Gyrus	brain
20	chr1:85065600-85069600	Weak transcription	Left Ventricle	heart
21	chr1:85065800-85066400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:85065800-85066400	Enhancers	Colon Smooth Muscle	Colon
23	chr1:85065800-85066600	Enhancers	HSMM	muscle
24	chr1:85065800-85066600	Enhancers	NHDF-Ad	bronchial
25	chr1:85065800-85066800	Enhancers	Osteobl	bone
26	chr1:85065800-85067000	Enhancers	GM12878-XiMat	blood
27	chr1:85065800-85068000	Weak transcription	Aorta	Aorta
28	chr1:85065800-85068000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:85065800-85069000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:85065800-85069000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:85066000-85066400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:85066000-85066400	Weak transcription	NHLF	lung
33	chr1:85066000-85068800	Weak transcription	HMEC	breast
34	chr1:85066000-85068800	Weak transcription	NHEK	skin
35	chr1:85066000-85069000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:85066000-85069000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links