Variant report

Variant	rs72952111
Chromosome Location	chr1:85065375-85065376
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: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11800617	1.00[EUR][1000 genomes]
rs11801376	1.00[EUR][1000 genomes]
rs11801784	1.00[EUR][1000 genomes]
rs11802361	1.00[EUR][1000 genomes]
rs11806835	1.00[EUR][1000 genomes]
rs2911574	1.00[EUR][1000 genomes]
rs34769319	1.00[EUR][1000 genomes]
rs57295979	1.00[EUR][1000 genomes]
rs6576716	1.00[EUR][1000 genomes]
rs6688331	1.00[EUR][1000 genomes]
rs72948493	1.00[EUR][1000 genomes]
rs72948498	1.00[EUR][1000 genomes]
rs72950307	1.00[EUR][1000 genomes]
rs72950320	1.00[EUR][1000 genomes]
rs72950348	1.00[EUR][1000 genomes]
rs72950351	1.00[EUR][1000 genomes]
rs72950354	1.00[EUR][1000 genomes]
rs72950365	1.00[EUR][1000 genomes]
rs72950367	1.00[EUR][1000 genomes]
rs72950382	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72952106	1.00[EUR][1000 genomes]
rs72952122	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72952123	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7517918	1.00[EUR][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:38 , 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	chr1:85063400-85065400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:85063600-85065400	Enhancers	NHDF-Ad	bronchial
5	chr1:85064200-85065400	Enhancers	Colon Smooth Muscle	Colon
6	chr1:85064200-85065600	Enhancers	Brain Angular Gyrus	brain
7	chr1:85064200-85065600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:85064200-85065800	Flanking Active TSS	GM12878-XiMat	blood
9	chr1:85064400-85065800	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:85064400-85066000	Enhancers	HMEC	breast
11	chr1:85064400-85066000	Enhancers	NHEK	skin
12	chr1:85064400-85066400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:85064600-85065600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:85064600-85066000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:85064600-85066200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:85064800-85065600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:85064800-85065600	Enhancers	Fetal Muscle Leg	muscle
18	chr1:85064800-85065600	Enhancers	Left Ventricle	heart
19	chr1:85064800-85065800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:85064800-85065800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:85064800-85066200	Enhancers	Fetal Heart	heart
22	chr1:85064800-85067000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:85065000-85065400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:85065000-85065400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:85065000-85065400	Active TSS	NH-A	brain
26	chr1:85065000-85065600	Active TSS	Stomach Smooth Muscle	stomach
27	chr1:85065000-85065800	Enhancers	Aorta	Aorta
28	chr1:85065000-85066400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:85065000-85066400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:85065200-85065400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:85065200-85065400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:85065200-85065400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:85065200-85065400	Enhancers	Hela-S3	cervix
34	chr1:85065200-85065400	Enhancers	HSMM	muscle
35	chr1:85065200-85065400	Enhancers	HUVEC	blood vessel
36	chr1:85065200-85065400	Enhancers	Osteobl	bone
37	chr1:85065200-85066000	Enhancers	NHLF	lung
38	chr1:85065200-85066200	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links