Variant report

Variant	rs6990611
Chromosome Location	chr8:125918976-125918977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125827650..125829441-chr8:125917786..125919510,2	K562	blood:
2	chr8:125878699..125880326-chr8:125918486..125921255,2	MCF-7	breast:
3	chr8:125918058..125920568-chr8:125931975..125935627,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250428	Chromatin interaction
ENSG00000255491	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1052291	0.85[EUR][1000 genomes]
rs11775219	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11776147	0.90[ASN][1000 genomes]
rs11777190	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11778786	0.84[EUR][1000 genomes]
rs11778814	0.84[EUR][1000 genomes]
rs11780103	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11780865	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs11783773	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11787203	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11993071	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.97[ASN][1000 genomes]
rs17304872	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs17305012	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes]
rs17396442	0.82[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap]
rs2077670	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs56073554	0.84[EUR][1000 genomes]
rs6470319	0.92[ASN][1000 genomes]
rs6989608	1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs6997550	0.80[EUR][1000 genomes]
rs7009560	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7464449	0.83[ASN][1000 genomes]
rs7814843	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap]
rs9785063	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv971701	chr8:125909483-125925671	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125911800-125922200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125914000-125919800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:125914400-125919600	Weak transcription	Fetal Intestine Small	intestine
4	chr8:125918200-125919600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr8:125918800-125919000	Enhancers	Brain Hippocampus Middle	brain
6	chr8:125918800-125919000	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr8:125918800-125919200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr8:125918800-125919200	Flanking Active TSS	Brain Angular Gyrus	brain
9	chr8:125918800-125919400	Active TSS	Osteobl	bone
10	chr8:125918800-125919800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:125918800-125919800	Enhancers	Placenta	Placenta
12	chr8:125918800-125919800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr8:125918800-125920000	Enhancers	Placenta Amnion	Placenta Amnion

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