Variant report

Variant	rs71491210
Chromosome Location	chr10:38110241-38110242
allele	C/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	HNF4A	chr10:38110167-38110530	HepG2	liver:	n/a	chr10:38110337-38110352
2	HNF4G	chr10:38110204-38110489	HepG2	liver:	n/a	chr10:38110336-38110351
3	HNF4A	chr10:38110166-38110524	HepG2	liver:	n/a	chr10:38110337-38110352

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:38110004..38112160-chr10:38113639..38116563,2	K562	blood:

Variant related genes	Relation type
ENSG00000228828	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10827830	1.00[EUR][1000 genomes]
rs10827834	1.00[EUR][1000 genomes]
rs10827837	1.00[EUR][1000 genomes]
rs10827838	1.00[EUR][1000 genomes]
rs11011308	0.92[AFR][1000 genomes]
rs11011356	1.00[EUR][1000 genomes]
rs11011364	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011368	0.89[EUR][1000 genomes]
rs11011375	1.00[EUR][1000 genomes]
rs11011376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011385	1.00[EUR][1000 genomes]
rs11011393	1.00[EUR][1000 genomes]
rs11011403	1.00[EUR][1000 genomes]
rs11011412	1.00[EUR][1000 genomes]
rs11011415	1.00[EUR][1000 genomes]
rs11812927	1.00[EUR][1000 genomes]
rs11813932	1.00[EUR][1000 genomes]
rs11814622	1.00[EUR][1000 genomes]
rs11816307	1.00[EUR][1000 genomes]
rs11817696	1.00[EUR][1000 genomes]
rs11818933	1.00[EUR][1000 genomes]
rs11819551	1.00[EUR][1000 genomes]
rs12240311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12241614	1.00[EUR][1000 genomes]
rs12244864	1.00[EUR][1000 genomes]
rs12248857	1.00[EUR][1000 genomes]
rs12250395	1.00[EUR][1000 genomes]
rs12251570	1.00[EUR][1000 genomes]
rs12252091	0.89[EUR][1000 genomes]
rs12252754	1.00[EUR][1000 genomes]
rs12256181	1.00[EUR][1000 genomes]
rs12256794	1.00[EUR][1000 genomes]
rs12257632	1.00[EUR][1000 genomes]
rs12257902	1.00[EUR][1000 genomes]
rs12258024	1.00[EUR][1000 genomes]
rs12258128	1.00[EUR][1000 genomes]
rs12258252	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12260189	1.00[EUR][1000 genomes]
rs12260310	1.00[EUR][1000 genomes]
rs12262559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12262814	1.00[EUR][1000 genomes]
rs12262927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12266728	1.00[EUR][1000 genomes]
rs12267847	1.00[EUR][1000 genomes]
rs12267923	1.00[EUR][1000 genomes]
rs12269398	1.00[EUR][1000 genomes]
rs12770231	1.00[EUR][1000 genomes]
rs12770438	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12773340	1.00[EUR][1000 genomes]
rs12777107	1.00[EUR][1000 genomes]
rs12778900	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12779056	1.00[EUR][1000 genomes]
rs12783599	1.00[EUR][1000 genomes]
rs34152840	1.00[EUR][1000 genomes]
rs34222428	1.00[EUR][1000 genomes]
rs34445730	1.00[EUR][1000 genomes]
rs34591573	1.00[EUR][1000 genomes]
rs34724357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34918037	1.00[EUR][1000 genomes]
rs34964888	1.00[EUR][1000 genomes]
rs35006520	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35056062	1.00[EUR][1000 genomes]
rs35246660	1.00[EUR][1000 genomes]
rs35404142	1.00[EUR][1000 genomes]
rs35818588	1.00[EUR][1000 genomes]
rs57753536	1.00[EUR][1000 genomes]
rs60538050	1.00[EUR][1000 genomes]
rs71491203	1.00[EUR][1000 genomes]
rs71491212	1.00[EUR][1000 genomes]
rs71491214	1.00[EUR][1000 genomes]
rs71491223	1.00[EUR][1000 genomes]
rs71491227	1.00[EUR][1000 genomes]
rs71491228	1.00[EUR][1000 genomes]
rs71491229	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv982874	chr10:38092839-38111415	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr10:38103800-38118000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:38107200-38111200	ZNF genes & repeats	Liver	Liver
3	chr10:38109600-38116000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr10:38109600-38116200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:38109800-38111200	Enhancers	HepG2	liver

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