Variant report

Variant	rs9302893
Chromosome Location	chr17:67226643-67226644
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	POLR2A	chr17:67226566-67227935	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67220676..67223689-chr17:67224007..67226701,3	K562	blood:
2	chr17:67221677..67223634-chr17:67225109..67226721,2	MCF-7	breast:

Variant related genes	Relation type
ABCA10	TF binding region
ENSG00000154263	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10491177	0.85[JPT][hapmap]
rs112914	0.82[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap]
rs11655507	0.81[CHD][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.80[ASN][1000 genomes]
rs11871771	0.95[JPT][hapmap]
rs12938039	0.82[JPT][hapmap]
rs12939436	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12949267	0.83[MEX][hapmap]
rs1468513	0.85[JPT][hapmap]
rs1860121	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs471193	0.83[AMR][1000 genomes]
rs475283	0.82[CHB][hapmap]
rs486840	0.87[MEX][hapmap]
rs531586	0.82[AMR][1000 genomes]
rs534645	0.95[CHD][hapmap];0.88[GIH][hapmap]
rs6501291	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.96[ASN][1000 genomes]
rs6501292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6501313	0.82[CHB][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7222780	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7223895	0.87[MEX][hapmap]
rs817121	0.83[AMR][1000 genomes]
rs817126	0.87[MEX][hapmap]
rs817128	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv457888	chr17:67149973-67226643	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv575931	chr17:67149973-67226643	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv516799	chr17:67210267-67231581	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
6	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
7	esv2434903	chr17:67226639-67226647	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv2096759	chr17:67226641-67226644	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67144000-67236000	Weak transcription	Psoas Muscle	Psoas
2	chr17:67173400-67230000	Weak transcription	Pancreas	Pancrea
3	chr17:67207600-67247800	Weak transcription	Left Ventricle	heart
4	chr17:67213800-67230400	Weak transcription	Brain Angular Gyrus	brain
5	chr17:67215600-67239200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr17:67215600-67249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr17:67220400-67231200	Weak transcription	Osteobl	bone
8	chr17:67223000-67235600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr17:67224600-67248600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:67225200-67227200	Weak transcription	Liver	Liver
11	chr17:67225200-67231600	Weak transcription	Ovary	ovary
12	chr17:67225600-67227600	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links