Variant report

Variant	rs11786744
Chromosome Location	chr8:5002099-5002100
allele	G/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	CEBPB	chr8:5001810-5002162	Hela-S3	cervix:	n/a	chr8:5001980-5001991 chr8:5001981-5001990 chr8:5001979-5001990
2	CEBPB	chr8:5001807-5002140	HepG2	liver:	n/a	chr8:5001980-5001991 chr8:5001981-5001990 chr8:5001979-5001990

Variant related genes	Relation type
RN7SL318P	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10097991	0.85[ASN][1000 genomes]
rs10101380	1.00[JPT][hapmap]
rs11136824	0.88[JPT][hapmap]
rs11136827	0.85[ASN][1000 genomes]
rs11774681	0.81[EUR][1000 genomes]
rs11774994	0.86[JPT][hapmap]
rs11778377	0.88[JPT][hapmap]
rs11778902	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11779265	0.88[JPT][hapmap]
rs13252356	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13275562	1.00[JPT][hapmap]
rs13277866	1.00[JPT][hapmap]
rs13278780	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13279168	1.00[JPT][hapmap]
rs13279982	0.82[ASN][1000 genomes]
rs1454274	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1454275	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1454277	0.83[EUR][1000 genomes]
rs1454278	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1454279	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs17072572	1.00[JPT][hapmap]
rs17351138	0.87[ASN][1000 genomes]
rs17435668	1.00[CHB][hapmap]
rs17435744	0.88[ASN][1000 genomes]
rs34055404	0.83[ASN][1000 genomes]
rs34964320	0.84[ASN][1000 genomes]
rs35516301	0.82[ASN][1000 genomes]
rs4242500	0.83[ASN][1000 genomes]
rs4602910	0.81[ASN][1000 genomes]
rs4875144	1.00[JPT][hapmap]
rs4875441	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs4875442	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs4875443	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4875444	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4875445	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4875446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4875448	1.00[JPT][hapmap]
rs4875449	0.83[EUR][1000 genomes]
rs4992344	0.81[ASN][1000 genomes]
rs56410150	0.87[ASN][1000 genomes]
rs57438827	0.87[ASN][1000 genomes]
rs57478517	0.88[ASN][1000 genomes]
rs60592058	0.88[ASN][1000 genomes]
rs67000071	0.98[ASN][1000 genomes]
rs67586192	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs67704315	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6993346	0.85[ASN][1000 genomes]
rs7001682	0.86[ASN][1000 genomes]
rs7014649	0.86[ASN][1000 genomes]
rs73181694	0.82[ASN][1000 genomes]
rs73507382	0.87[ASN][1000 genomes]
rs73507384	0.87[ASN][1000 genomes]
rs73661899	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7830151	0.86[ASN][1000 genomes]
rs7830168	0.86[ASN][1000 genomes]
rs7830304	0.86[ASN][1000 genomes]
rs7835791	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1031026	chr8:4771072-5054326	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv889978	chr8:4853197-5460166	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1028846	chr8:4907673-5128665	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1025394	chr8:4939429-5041417	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv889980	chr8:4940320-5112194	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1033108	chr8:4957499-5067611	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv539406	chr8:4957499-5067611	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1028032	chr8:4967369-5032325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv889981	chr8:4969414-5026520	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1030930	chr8:4974111-5044712	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv2761400	chr8:4990205-5044712	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv523969	chr8:5000907-5002478	Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5001800-5003600	Enhancers	NHEK	skin

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