Variant report

Variant	rs10080319
Chromosome Location	chr6:131992549-131992550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:131992289..131995426-chr6:131995620..131998596,3	K562	blood:
2	chr6:131972645..131975144-chr6:131991608..131993619,2	MCF-7	breast:
3	chr6:131990371..131993321-chr6:131995027..131997550,2	K562	blood:

Variant related genes	Relation type
ENSG00000154269	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10457573	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17060551	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56776570	0.94[EUR][1000 genomes]
rs73552660	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7740541	1.00[ASW][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7744355	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7762879	0.81[LWK][hapmap]
rs7768555	1.00[CHD][hapmap]
rs9321305	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9321306	1.00[GIH][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9483312	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9483316	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9483317	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9483318	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9483320	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9493043	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9493044	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493047	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9493051	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9493052	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9493055	0.83[AMR][1000 genomes];0.94[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	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830809	chr6:131953928-132126417	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv830810	chr6:131960923-132138396	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv886669	chr6:131991532-132059074	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131975200-132008200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:131976000-131996600	Weak transcription	Fetal Intestine Large	intestine
3	chr6:131976200-131996800	Weak transcription	Fetal Intestine Small	intestine
4	chr6:131977000-131997000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:131986800-132009600	Strong transcription	HepG2	liver
6	chr6:131992400-131992800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:131992400-131993600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr6:131992400-131995600	Strong transcription	K562	blood

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