Variant report

Variant	rs11652964
Chromosome Location	chr17:18040404-18040405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr17:18040348-18040486	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:18040357-18040489	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18031771..18034328-chr17:18038844..18040628,2	MCF-7	breast:
2	chr17:18039043..18041825-chr17:18043264..18046470,4	K562	blood:
3	chr17:18034621..18036345-chr17:18038369..18041119,2	K562	blood:
4	chr17:18036589..18038167-chr17:18040097..18042014,2	K562	blood:
5	chr17:18039531..18041825-chr17:18044151..18046470,2	K562	blood:

No data

Variant related genes	Relation type
MYO15A	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10048161	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10451244	0.86[EUR][1000 genomes]
rs11078411	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11078412	1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs11653988	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11654146	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11654177	0.85[EUR][1000 genomes]
rs11654741	0.86[EUR][1000 genomes]
rs11655588	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs11655731	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11655797	0.86[EUR][1000 genomes]
rs11656035	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11657194	0.90[EUR][1000 genomes]
rs11658477	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11868832	0.83[EUR][1000 genomes]
rs11868886	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11871039	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11871491	0.86[EUR][1000 genomes]
rs12600694	1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs13284	0.86[EUR][1000 genomes]
rs1563371	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs1563373	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs16960980	1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs16960983	1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs16960986	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs16960990	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs16960996	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs2015336	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28811342	0.86[EUR][1000 genomes]
rs3088233	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs34474249	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36058389	0.86[EUR][1000 genomes]
rs55918833	0.93[EUR][1000 genomes]
rs58441148	0.86[EUR][1000 genomes]
rs59354912	0.88[EUR][1000 genomes]
rs60285171	0.84[EUR][1000 genomes]
rs62072464	0.85[EUR][1000 genomes]
rs62072465	0.86[EUR][1000 genomes]
rs62072466	0.86[EUR][1000 genomes]
rs62072467	0.88[EUR][1000 genomes]
rs62072468	0.84[EUR][1000 genomes]
rs62072496	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62072497	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62072498	0.86[EUR][1000 genomes]
rs62072500	0.86[EUR][1000 genomes]
rs62073602	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073603	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62073604	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62073605	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073606	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62073607	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62073608	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62073609	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62073611	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62073615	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62073649	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62073650	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6502640	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs7207276	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs735960	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065026	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8069094	0.90[EUR][1000 genomes]
rs8077577	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9916193	0.94[EUR][1000 genomes]
rs997315	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv907769	chr17:18000321-18064195	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv457697	chr17:18003845-18046290	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv574527	chr17:18003845-18046290	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv907771	chr17:18013560-18098018	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv470580	chr17:18029857-18060192	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
13	nsv907772	chr17:18030524-18098018	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv510702	chr17:18037676-18116801	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18039600-18041600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:18039600-18046800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr17:18039800-18046200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:18040000-18041400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:18040000-18043400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:18040200-18044800	Enhancers	Liver	Liver
7	chr17:18040400-18041400	Enhancers	HepG2	liver

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