Variant report

Variant	rs6993611
Chromosome Location	chr8:125907622-125907623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10956222	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1820535	0.81[ASN][1000 genomes]
rs1820536	0.81[ASN][1000 genomes]
rs28890850	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57346531	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59588340	0.82[ASN][1000 genomes]
rs61634814	0.86[ASN][1000 genomes]
rs6470320	0.93[EUR][1000 genomes]
rs6470322	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6986033	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6998268	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7009755	0.86[ASN][1000 genomes]
rs7464059	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7821961	0.85[ASN][1000 genomes]
rs7834130	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125903000-125907800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:125903000-125908000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:125903000-125908000	Weak transcription	NHEK	skin
4	chr8:125903000-125908200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:125903000-125911000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:125903200-125908400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:125906200-125908200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:125907000-125911200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:125907400-125908800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr8:125907400-125909200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:125907400-125909400	Enhancers	Primary hematopoietic stem cells	blood
12	chr8:125907400-125909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:125907400-125909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:125907400-125910600	Enhancers	Primary B cells from peripheral blood	blood
15	chr8:125907600-125908000	Enhancers	K562	blood
16	chr8:125907600-125909600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:125907600-125910600	Enhancers	Primary B cells from cord blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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