Variant report

Variant	rs12500975
Chromosome Location	chr4:74707640-74707641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11930978	0.85[AFR][1000 genomes]
rs13110736	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13148728	0.84[EUR][1000 genomes]
rs1957078	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4694641	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62312418	0.82[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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74703000-74708200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:74703000-74708800	Weak transcription	HMEC	breast
3	chr4:74703600-74708400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:74703600-74709000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:74703800-74709000	Weak transcription	NHDF-Ad	bronchial
6	chr4:74706600-74719000	Weak transcription	Pancreas	Pancrea
7	chr4:74706800-74708200	Enhancers	HUVEC	blood vessel
8	chr4:74707000-74707800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:74707000-74707800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:74707000-74707800	Enhancers	Osteobl	bone
11	chr4:74707000-74710800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:74707000-74711000	Enhancers	NHEK	skin
13	chr4:74707200-74708000	Enhancers	Hela-S3	cervix
14	chr4:74707400-74707800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr4:74707400-74708600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:74707400-74709000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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