Variant report

Variant	rs6467245
Chromosome Location	chr7:80193596-80193597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80179936..80183033-chr7:80192105..80194774,3	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10215822	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10215825	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10229705	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10239813	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10249397	0.98[EUR][1000 genomes]
rs10265053	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10278120	0.98[EUR][1000 genomes]
rs12531594	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs12669206	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13222156	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs13222395	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13237390	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13242267	0.99[EUR][1000 genomes]
rs13245374	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1464794	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1524601	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1851937	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1931693	0.99[EUR][1000 genomes]
rs1965524	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1965525	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2091178	0.98[EUR][1000 genomes]
rs2091180	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2210684	0.99[EUR][1000 genomes]
rs2366741	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs28782219	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28850277	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs28872565	0.99[EUR][1000 genomes]
rs35136290	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4728156	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4728157	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59057809	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62459940	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6944746	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6945398	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6952452	0.81[ASN][1000 genomes]
rs6961824	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7778094	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7797266	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs819446	0.84[EUR][1000 genomes]
rs819447	0.82[EUR][1000 genomes]
rs819451	0.82[EUR][1000 genomes]
rs819452	0.82[EUR][1000 genomes]
rs819453	0.82[EUR][1000 genomes]
rs819454	0.83[EUR][1000 genomes]
rs847544	0.84[EUR][1000 genomes]
rs9649532	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030961	chr7:80032525-80197468	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv538991	chr7:80032525-80197468	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv949205	chr7:80039695-80211200	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv888525	chr7:80148668-80232471	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv1017381	chr7:80187725-80224314	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80191800-80194200	Enhancers	Fetal Intestine Large	intestine
2	chr7:80192000-80193800	Enhancers	Hela-S3	cervix
3	chr7:80192400-80194400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr7:80192400-80195000	Enhancers	Placenta	Placenta
5	chr7:80192800-80193600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:80192800-80193800	Enhancers	NHEK	skin
7	chr7:80192800-80194000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:80192800-80194000	Enhancers	HMEC	breast
9	chr7:80192800-80194600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:80192800-80194600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:80193000-80193600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr7:80193000-80193800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:80193000-80193800	Enhancers	Adipose Nuclei	Adipose
14	chr7:80193200-80193600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:80193200-80193800	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr7:80193200-80195200	Weak transcription	Right Ventricle	heart
17	chr7:80193200-80196000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:80193400-80193800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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