Variant report

Variant	rs7802930
Chromosome Location	chr7:116900040-116900041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr7:116899984-116900386	GM12878	blood:	n/a	chr7:116900193-116900204

No.	Distal block	Cell Line	Cell type
1	chr7:116899564..116901689-chr7:116917927..116920462,2	K562	blood:
2	chr7:116897859..116900656-chr7:117824567..117826449,2	K562	blood:
3	chr7:116899094..116902058-chr7:116908237..116910049,2	MCF-7	breast:
4	7:115890993-115892266..7:116894301-116914960	GM12878	blood:
5	7:116754962-116765597..7:116894301-116914960	Hela-S3	cervix:

Variant related genes	Relation type
MTND4P6	TF binding region
ENSG00000004866	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10226864	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10235236	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10254103	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10255896	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10256129	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10271623	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10280067	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10953839	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11981089	0.94[ASN][1000 genomes]
rs13224335	0.94[ASN][1000 genomes]
rs13246951	0.88[ASN][1000 genomes]
rs1468655	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1860698	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2402176	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs38902	0.92[ASN][1000 genomes]
rs38909	0.94[ASN][1000 genomes]
rs38916	0.92[ASN][1000 genomes]
rs6466605	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6466606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6466607	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6942558	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6944152	0.88[ASN][1000 genomes]
rs6946781	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6947786	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6958283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6965467	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6968768	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6974937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6975501	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6979800	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs718738	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs739693	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7776963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7795841	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr7:116898800-116900800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr7:116899000-116900800	Enhancers	NHDF-Ad	bronchial
3	chr7:116899200-116900600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:116899200-116900600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:116899200-116900600	Enhancers	NHEK	skin
6	chr7:116899200-116900800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:116899200-116900800	Enhancers	NHLF	lung
8	chr7:116899400-116900400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:116899400-116900400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:116899400-116900600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:116899400-116900800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:116899400-116900800	Enhancers	HMEC	breast
13	chr7:116899400-116901200	Enhancers	HSMM	muscle
14	chr7:116899600-116900400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:116899600-116900800	Enhancers	HSMMtube	muscle
16	chr7:116899800-116900400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:116900000-116900200	Flanking Active TSS	Osteobl	bone

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