Variant report

Variant	rs2143545
Chromosome Location	chr1:210062667-210062668
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	chr1:210062213..210064340-chr1:210071248..210073930,2	K562	blood:
2	chr1:210059417..210061400-chr1:210062480..210065007,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1883725	0.81[EUR][1000 genomes]
rs2206700	0.91[EUR][1000 genomes]
rs6674507	0.88[EUR][1000 genomes]
rs6675416	0.89[EUR][1000 genomes]
rs6677876	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6681355	0.89[EUR][1000 genomes]
rs7511737	0.87[EUR][1000 genomes]
rs992976	0.89[AMR][1000 genomes];0.86[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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210058000-210064000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:210058600-210063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:210058800-210064000	Weak transcription	HUVEC	blood vessel
4	chr1:210059400-210063400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:210059800-210063600	Weak transcription	NHDF-Ad	bronchial
6	chr1:210059800-210064000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:210059800-210064000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:210060200-210063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:210060200-210063600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:210060200-210064000	Weak transcription	HSMM	muscle
11	chr1:210060200-210064000	Weak transcription	NH-A	brain
12	chr1:210060400-210063200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:210060400-210063200	Weak transcription	HMEC	breast
14	chr1:210060400-210063200	Weak transcription	NHEK	skin
15	chr1:210060400-210066800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:210060600-210064000	Weak transcription	Hela-S3	cervix
17	chr1:210060600-210068200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:210062400-210062800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:210062400-210066400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:210062600-210063800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links