Variant report

Variant	rs6994690
Chromosome Location	chr8:124763359-124763360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11987639	0.93[EUR][1000 genomes]
rs11989364	0.93[EUR][1000 genomes]
rs11989474	0.93[EUR][1000 genomes]
rs13439358	0.97[EUR][1000 genomes]
rs1431669	0.93[EUR][1000 genomes]
rs16898846	0.93[EUR][1000 genomes]
rs16898882	0.93[EUR][1000 genomes]
rs17260118	0.93[EUR][1000 genomes]
rs17351356	0.96[EUR][1000 genomes]
rs17351672	0.93[EUR][1000 genomes]
rs17351749	0.96[EUR][1000 genomes]
rs17351770	0.96[EUR][1000 genomes]
rs17352222	0.93[EUR][1000 genomes]
rs2116361	0.93[EUR][1000 genomes]
rs28490169	0.96[EUR][1000 genomes]
rs6985701	0.96[EUR][1000 genomes]
rs6990465	0.97[EUR][1000 genomes]
rs7007309	0.97[EUR][1000 genomes]
rs7010092	0.97[EUR][1000 genomes]
rs7013861	0.93[EUR][1000 genomes]
rs7016623	0.93[EUR][1000 genomes]
rs73333723	0.93[EUR][1000 genomes]
rs73703653	1.00[EUR][1000 genomes]
rs73703655	0.97[EUR][1000 genomes]
rs73703656	0.93[EUR][1000 genomes]
rs7821509	0.93[EUR][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	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124746800-124763600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:124757800-124764600	Weak transcription	Small Intestine	intestine
3	chr8:124759600-124764200	Enhancers	Fetal Intestine Small	intestine
4	chr8:124760400-124766400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:124760800-124763400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:124761800-124763400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:124762000-124766400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:124762200-124775600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:124763200-124766400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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

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