Variant report

Variant	rs1978681
Chromosome Location	chr8:124772451-124772452
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10505440	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991567	1.00[CHB][hapmap]
rs12545556	1.00[CHB][hapmap]
rs12550449	1.00[CHB][hapmap]
rs12680426	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978679	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978680	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651229	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7387172	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap];0.94[EUR][1000 genomes]
rs7825091	1.00[CHB][hapmap]
rs7825404	1.00[CHB][hapmap]
rs7836620	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[MEX][hapmap];0.80[EUR][1000 genomes]
rs9792209	1.00[CHB][hapmap]

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	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv6373	chr8:124741567-124786609	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 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	chr8:124762200-124775600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:124767400-124775600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:124767800-124778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:124768600-124774200	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:124770200-124775800	Enhancers	Fetal Intestine Large	intestine
6	chr8:124770200-124776200	Enhancers	Fetal Intestine Small	intestine
7	chr8:124770400-124774600	Enhancers	Duodenum Mucosa	Duodenum
8	chr8:124770600-124780000	Weak transcription	Pancreas	Pancrea
9	chr8:124770800-124775400	Weak transcription	Liver	Liver
10	chr8:124771800-124772600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:124771800-124773000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:124771800-124773000	Weak transcription	NHEK	skin
13	chr8:124771800-124773200	Weak transcription	HepG2	liver
14	chr8:124771800-124774000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:124772200-124774800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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

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