Variant report

Variant	rs4985935
Chromosome Location	chr17:20846326-20846327
allele	C/G
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	chr17:20845289-20847500	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20846131..20848515-chr17:20895317..20897201,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265099	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1038109	0.86[JPT][hapmap]
rs1044410	0.91[JPT][hapmap]
rs1044414	0.91[JPT][hapmap]
rs1044420	0.91[JPT][hapmap]
rs11204324	0.96[ASN][1000 genomes]
rs12600604	0.82[ASN][1000 genomes]
rs1993901	0.91[JPT][hapmap]
rs2009756	0.86[JPT][hapmap]
rs2291036	0.87[JPT][hapmap]
rs2291037	0.86[JPT][hapmap]
rs2364327	0.86[JPT][hapmap]
rs2364328	0.91[JPT][hapmap]
rs2364332	0.91[JPT][hapmap]
rs2364333	0.91[JPT][hapmap]
rs3612	0.86[JPT][hapmap]
rs3816664	0.91[JPT][hapmap]
rs3943299	0.91[JPT][hapmap]
rs4985820	0.87[JPT][hapmap]
rs4985941	0.96[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs4985948	0.92[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs4985949	0.82[ASN][1000 genomes]
rs4985952	0.82[ASN][1000 genomes]
rs4985953	0.86[JPT][hapmap]
rs4985955	0.86[JPT][hapmap]
rs4985962	0.91[JPT][hapmap]
rs4985974	0.83[JPT][hapmap]
rs5005801	0.86[JPT][hapmap]
rs6587109	0.91[JPT][hapmap]
rs6587115	0.87[JPT][hapmap]
rs7211094	0.82[JPT][hapmap]
rs7215369	0.91[JPT][hapmap]
rs7219244	0.85[JPT][hapmap]
rs7223388	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7226229	0.86[JPT][hapmap]
rs8064435	0.91[JPT][hapmap]
rs8068098	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8071311	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8075790	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs8076078	0.82[ASN][1000 genomes]
rs880652	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs899335	0.87[JPT][hapmap]
rs899342	0.81[JPT][hapmap]
rs961004	0.82[ASN][1000 genomes]
rs9797279	0.91[JPT][hapmap]
rs9896259	0.87[JPT][hapmap]
rs9896301	0.86[JPT][hapmap]
rs9898265	0.91[JPT][hapmap]
rs996065	0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv3330516	chr17:20572433-20862663	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1064365	chr17:20801739-20890716	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv574597	chr17:20802778-20872331	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv527161	chr17:20814766-20872331	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv457706	chr17:20814766-20872331	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv574598	chr17:20814766-20872331	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
10	nsv978393	chr17:20841928-20851802	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20827200-20856200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:20831000-20846800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr17:20831000-20847200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:20831400-20847000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr17:20832400-20847800	Weak transcription	Gastric	stomach
6	chr17:20834200-20846800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr17:20834600-20847200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr17:20834600-20847800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr17:20835600-20869000	Weak transcription	HepG2	liver
10	chr17:20838600-20852400	Weak transcription	K562	blood
11	chr17:20841600-20847400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr17:20843200-20852200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:20844600-20847600	Weak transcription	Placenta	Placenta
14	chr17:20845400-20847200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:20845600-20847200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:20845800-20846600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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