Variant report

Variant	rs17840383
Chromosome Location	chr7:64300612-64300613
allele	A/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	MAFK	chr7:64300303-64300667	IMR90	lung:	n/a	chr7:64300470-64300485
2	MAFF	chr7:64300303-64300663	HepG2	liver:	n/a	chr7:64300468-64300486
3	MAFF	chr7:64300304-64300658	K562	blood:	n/a	chr7:64300468-64300486
4	MAFK	chr7:64300306-64300654	K562	blood:	n/a	chr7:64300470-64300485
5	MAFK	chr7:64300296-64300665	HepG2	liver:	n/a	chr7:64300470-64300485
6	MAFK	chr7:64300306-64300651	HepG2	liver:	n/a	chr7:64300470-64300485
7	MAFK	chr7:64300312-64300619	Hela-S3	cervix:	n/a	chr7:64300470-64300485
8	MAFK	chr7:64300311-64300630	H1-hESC	embryonic stem cell:	n/a	chr7:64300470-64300485

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64297147..64300786-chr7:153106859..153112225,9	K562	blood:
2	chr7:64297147..64300763-chr7:153106859..153112373,8	K562	blood:

Variant related genes	Relation type
ENSG00000234338	TF binding region
ENSG00000234722	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10261284	1.00[EUR][1000 genomes]
rs11970946	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11974764	1.00[EUR][1000 genomes]
rs11979815	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11980327	1.00[EUR][1000 genomes]
rs11980353	1.00[EUR][1000 genomes]
rs11981568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12667282	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12671736	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1525810	1.00[EUR][1000 genomes]
rs17146410	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17840403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2863983	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28639953	0.85[ASN][1000 genomes]
rs3813699	1.00[EUR][1000 genomes]
rs3829002	1.00[EUR][1000 genomes]
rs4571616	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4610620	0.89[ASN][1000 genomes]
rs4717219	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718139	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718140	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59495111	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6460196	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977368	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs73699392	1.00[EUR][1000 genomes]
rs7779738	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786586	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7803066	0.96[ASN][1000 genomes]
rs9638210	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
7	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv888279	chr7:64094285-64331123	Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv1033291	chr7:64273434-64406276	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv508457	chr7:64286522-64391112	Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv15396	chr7:64295355-64301341	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1797468	chr7:64296309-64356050	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv607313	chr7:64298329-64300612	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv607314	chr7:64298527-64300612	ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64273400-64301400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:64293000-64301000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:64300000-64301200	Weak transcription	Pancreas	Pancrea
4	chr7:64300200-64301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:64300200-64310000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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