Variant report

Variant	rs2126581
Chromosome Location	chr8:107667731-107667732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107627292..107630232-chr8:107665410..107668409,2	MCF-7	breast:
2	chr8:107655517..107658061-chr8:107665588..107668318,2	K562	blood:
3	chr8:107665950..107668451-chr8:107679150..107681504,2	K562	blood:
4	chr8:107646860..107649484-chr8:107667686..107669336,2	MCF-7	breast:
5	chr8:107661627..107663921-chr8:107666779..107668430,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1580289	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1601249	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1676420	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1681879	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1681886	0.85[CHB][hapmap]
rs1681904	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1681905	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1784469	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1784472	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1784473	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1784480	0.82[JPT][hapmap]
rs1784492	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1784494	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2282509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627788	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2627790	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs725906	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs776932	0.91[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs776933	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs776934	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs776938	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs776939	0.89[EUR][1000 genomes]
rs776941	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs776944	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs776946	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs776948	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs776949	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs776950	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs776951	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs776954	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs776960	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs776961	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs776962	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs776963	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs776965	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533134	chr8:107307812-107670002	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv6342	chr8:107644092-107688898	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107601600-107669600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:107658200-107668800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:107658600-107668600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:107661400-107669400	Weak transcription	Esophagus	oesophagus
5	chr8:107661600-107668600	Weak transcription	Stomach Mucosa	stomach
6	chr8:107662800-107668800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:107666400-107668600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:107666600-107669000	Weak transcription	NHLF	lung
9	chr8:107667000-107667800	Enhancers	Fetal Intestine Small	intestine
10	chr8:107667000-107667800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr8:107667000-107668800	Enhancers	GM12878-XiMat	blood
12	chr8:107667000-107671400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr8:107667200-107667800	Enhancers	Fetal Intestine Large	intestine
14	chr8:107667200-107668400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:107667200-107668400	Enhancers	HMEC	breast
16	chr8:107667200-107668800	Enhancers	NHEK	skin
17	chr8:107667200-107669200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:107667400-107668400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr8:107667600-107667800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr8:107667600-107669000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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