Variant report

Variant	rs62400791
Chromosome Location	chr6:24727038-24727039
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24726493..24729301-chr6:24759717..24762580,2	K562	blood:
2	chr6:24725783..24727505-chr6:24773854..24776651,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112312	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11559067	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17243136	1.00[AFR][1000 genomes]
rs17243276	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17249561	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17249729	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17412874	1.00[AFR][1000 genomes]
rs17419844	0.88[EUR][1000 genomes]
rs17491730	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62400556	1.00[AFR][1000 genomes]
rs62400558	1.00[AFR][1000 genomes]
rs62400783	0.80[EUR][1000 genomes]
rs62400786	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62400787	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62400789	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62400790	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62400792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62400793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62400795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62400819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62400821	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62400822	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62402860	1.00[AFR][1000 genomes]
rs62402864	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3508002	chr6:24618580-24732946	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3508003	chr6:24618580-24732946	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv830609	chr6:24712086-24896647	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
4	nsv428474	chr6:24714157-24797977	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24722600-24727600	Weak transcription	Fetal Intestine Large	intestine
2	chr6:24722600-24727600	Weak transcription	Fetal Intestine Small	intestine
3	chr6:24722600-24727800	Weak transcription	Stomach Mucosa	stomach
4	chr6:24722600-24728200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:24722800-24727800	Weak transcription	HepG2	liver
6	chr6:24726200-24727200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:24726600-24727200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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