Variant report

Variant	rs73472783
Chromosome Location	chr6:71099790-71099791
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	MYC	chr6:71099124-71100357	K562	blood:	n/a	n/a
2	FOXA1	chr6:71099779-71100179	HepG2	liver:	n/a	n/a
3	MAFF	chr6:71099747-71099907	K562	blood:	n/a	n/a
4	FOXA1	chr6:71099716-71100173	HepG2	liver:	n/a	n/a
5	MYC	chr6:71099640-71100161	K562	blood:	n/a	n/a
6	CUX1	chr6:71099731-71100086	K562	blood:	n/a	n/a
7	CEBPB	chr6:71099746-71100105	K562	blood:	n/a	n/a
8	TBL1XR1	chr6:71099447-71100468	K562	blood:	n/a	n/a
9	TEAD4	chr6:71099785-71100211	K562	blood:	n/a	n/a
10	FOXA2	chr6:71099564-71100453	HepG2	liver:	n/a	n/a
11	CEBPB	chr6:71099766-71100128	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71099555..71102721-chr6:71169036..71172502,3	K562	blood:

Variant related genes	Relation type
ENSG00000237643	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs4084006	1.00[AMR][1000 genomes]
rs57211713	0.91[AFR][1000 genomes]
rs57247959	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57627989	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58125338	1.00[AMR][1000 genomes]
rs58605827	1.00[AMR][1000 genomes]
rs60954115	0.91[AFR][1000 genomes]
rs6906657	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472786	1.00[AMR][1000 genomes]
rs73472788	1.00[AMR][1000 genomes]
rs73472800	1.00[AMR][1000 genomes]
rs73474931	1.00[AMR][1000 genomes]
rs73474939	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474948	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474957	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474960	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474964	1.00[AMR][1000 genomes]
rs73474983	1.00[AMR][1000 genomes]
rs73476884	1.00[AMR][1000 genomes]
rs73476888	1.00[AMR][1000 genomes]
rs73478818	1.00[AMR][1000 genomes]
rs73480278	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482214	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485141	0.91[AFR][1000 genomes]
rs73485161	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485167	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485171	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488113	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488128	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488142	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489065	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489072	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489087	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7752725	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer 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 target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1026229	chr6:71016272-71183503	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv886144	chr6:71018467-71214201	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1032876	chr6:71048428-71145166	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr6:71097600-71108000	Enhancers	Fetal Intestine Large	intestine
2	chr6:71098800-71100000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr6:71099400-71108400	Enhancers	Fetal Intestine Small	intestine
4	chr6:71099600-71099800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:71099600-71099800	Flanking Active TSS	K562	blood

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