Variant report

Variant	rs12171619
Chromosome Location	chr7:18191352-18191353
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	RAD21	chr7:18191091-18191404	HepG2	liver:	n/a	chr7:18191243-18191262
2	CTCF	chr7:18191145-18191362	Hela-S3	cervix:	n/a	chr7:18191245-18191263 chr7:18191240-18191261
3	CTCF	chr7:18191076-18191407	K562	blood:	n/a	chr7:18191245-18191263 chr7:18191240-18191261
4	CTCF	chr7:18191103-18191411	GM12878	blood:	n/a	chr7:18191245-18191263 chr7:18191240-18191261
5	RAD21	chr7:18191075-18191366	SK-N-SH_RA	brain:	n/a	chr7:18191243-18191262
6	CTCF	chr7:18191220-18191370	AoAF	blood vessel:	n/a	chr7:18191245-18191263 chr7:18191240-18191261
7	CTCF	chr7:18191114-18191385	IMR90	lung:	n/a	chr7:18191245-18191263 chr7:18191240-18191261
8	CTCF	chr7:18191240-18191390	HEEpiC	esophagus:	n/a	chr7:18191245-18191263 chr7:18191240-18191261
9	CTCF	chr7:18191280-18191430	HFF-Myc	foreskin:	n/a	n/a
10	RAD21	chr7:18191050-18191395	SK-N-SH_RA	brain:	n/a	chr7:18191243-18191262
11	CTCF	chr7:18191220-18191370	HCPEpiC	choroid plexus:	n/a	chr7:18191245-18191263 chr7:18191240-18191261
12	SP2	chr7:18191029-18191437	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr7:18191145-18191403	IMR90	lung:	n/a	chr7:18191243-18191262
14	SMC3	chr7:18191155-18191403	Hela-S3	cervix:	n/a	chr7:18191247-18191261

Variant related genes	Relation type
HDAC9	TF binding region

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10224566	0.82[ASW][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs10239694	0.83[EUR][1000 genomes]
rs10268455	0.85[EUR][1000 genomes]
rs10268616	0.85[EUR][1000 genomes]
rs10271810	0.85[EUR][1000 genomes]
rs1178363	0.92[EUR][1000 genomes]
rs1178374	0.83[EUR][1000 genomes]
rs12171593	0.85[EUR][1000 genomes]
rs1528677	0.85[EUR][1000 genomes]
rs1528678	0.85[EUR][1000 genomes]
rs1528679	0.85[EUR][1000 genomes]
rs1637635	0.92[EUR][1000 genomes]
rs17138717	0.85[EUR][1000 genomes]
rs2049725	0.85[EUR][1000 genomes]
rs2731567	0.81[EUR][1000 genomes]
rs2860074	0.92[EUR][1000 genomes]
rs6971014	0.85[EUR][1000 genomes]
rs72591361	0.81[EUR][1000 genomes]
rs7789571	0.83[TSI][hapmap];0.92[EUR][1000 genomes]
rs9942632	0.85[EUR][1000 genomes]

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	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv531013	chr7:17970218-18248642	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1022746	chr7:17978103-18233458	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv606358	chr7:18084843-18416097	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1027814	chr7:18144199-18194899	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18188200-18202800	Weak transcription	Aorta	Aorta
2	chr7:18190000-18194800	Enhancers	Fetal Heart	heart
3	chr7:18191000-18192200	Enhancers	Pancreatic Islets	Pancreatic Islet

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