Variant report

Variant	rs6754419
Chromosome Location	chr2:12078202-12078203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2119143	1.00[AMR][1000 genomes]
rs2165218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6742751	1.00[AMR][1000 genomes]
rs73175477	1.00[AMR][1000 genomes]
rs73175481	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12071200-12078400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:12071200-12081200	Weak transcription	Right Atrium	heart
3	chr2:12072600-12084600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:12074400-12084200	Weak transcription	GM12878-XiMat	blood
5	chr2:12078000-12078800	Enhancers	Fetal Muscle Leg	muscle
6	chr2:12078000-12079400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:12078000-12079400	Enhancers	HMEC	breast
8	chr2:12078000-12080200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:12078200-12078400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:12078200-12078400	Enhancers	Esophagus	oesophagus
11	chr2:12078200-12078800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:12078200-12078800	Enhancers	Fetal Stomach	stomach
13	chr2:12078200-12078800	Enhancers	HSMM	muscle
14	chr2:12078200-12079000	Flanking Active TSS	NHEK	skin
15	chr2:12078200-12079400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links