Variant report

Variant	rs6998326
Chromosome Location	chr8:9273585-9273586
allele	A/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	NFYB	chr8:9273395-9273677	GM12878	blood:	n/a	n/a
2	USF1	chr8:9273284-9273817	HCT-116	colon:	n/a	chr8:9273533-9273544 chr8:9273312-9273321
3	BACH1	chr8:9273578-9273842	K562	blood:	n/a	n/a
4	USF1	chr8:9273311-9273724	K562	blood:	n/a	chr8:9273533-9273544 chr8:9273312-9273321
5	USF1	chr8:9273432-9273587	SK-N-SH_RA	brain:	n/a	chr8:9273533-9273544
6	USF2	chr8:9273372-9273662	H1-hESC	embryonic stem cell:	n/a	chr8:9273533-9273544
7	USF1	chr8:9273398-9273650	H1-hESC	embryonic stem cell:	n/a	chr8:9273533-9273544
8	USF1	chr8:9273335-9273667	H1-hESC	embryonic stem cell:	n/a	chr8:9273533-9273544
9	USF1	chr8:9273275-9273737	K562	blood:	n/a	chr8:9273533-9273544 chr8:9273312-9273321
10	USF1	chr8:9273309-9273697	ECC-1	luminal epithelium:	n/a	chr8:9273533-9273544 chr8:9273312-9273321
11	USF1	chr8:9273447-9273610	HepG2	liver:	n/a	chr8:9273533-9273544
12	USF1	chr8:9273291-9273788	ECC-1	luminal epithelium:	n/a	chr8:9273533-9273544 chr8:9273312-9273321
13	USF2	chr8:9273485-9273585	Hela-S3	cervix:	n/a	chr8:9273533-9273544
14	USF1	chr8:9273430-9273594	SK-N-SH_RA	brain:	n/a	chr8:9273533-9273544
15	USF1	chr8:9273350-9273681	A549	lung:	n/a	chr8:9273533-9273544
16	USF1	chr8:9273344-9273610	A549	lung:	n/a	chr8:9273533-9273544
17	USF2	chr8:9273400-9273659	K562	blood:	n/a	chr8:9273533-9273544
18	USF1	chr8:9273401-9273651	A549	lung:	n/a	chr8:9273533-9273544
19	USF1	chr8:9273336-9273691	A549	lung:	n/a	chr8:9273533-9273544
20	USF1	chr8:9273394-9273703	A549	lung:	n/a	chr8:9273533-9273544
21	NFYB	chr8:9273301-9273857	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254237	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11786170	0.82[EUR][1000 genomes]
rs13259937	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13279136	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13281098	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1458944	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17149988	1.00[JPT][hapmap]
rs17663618	0.82[EUR][1000 genomes]
rs17730811	0.82[EUR][1000 genomes]
rs2125523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34419585	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35589912	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35705789	0.84[EUR][1000 genomes]
rs35737154	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4841143	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4841150	0.82[EUR][1000 genomes]
rs67985496	0.83[EUR][1000 genomes]
rs6989109	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs7001721	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7001736	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005065	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7009845	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7464733	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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
5	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv2764086	chr8:9216584-9334601	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1026506	chr8:9258997-9338042	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1027325	chr8:9264405-9333207	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9268800-9274800	Weak transcription	Fetal Brain Male	brain
2	chr8:9270600-9274600	Weak transcription	Brain Germinal Matrix	brain

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