Variant report

Variant	rs406680
Chromosome Location	chr8:90813872-90813873
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90811959..90814919-chr8:90863666..90865460,3	MCF-7	breast:
2	chr8:90810688..90812516-chr8:90813829..90816588,2	MCF-7	breast:
3	chr8:90788397..90791255-chr8:90811983..90814369,2	MCF-7	breast:
4	chr8:90808879..90811361-chr8:90813296..90815805,3	K562	blood:
5	chr8:90812521..90814949-chr8:90913581..90915961,2	MCF-7	breast:
6	chr8:90812604..90815452-chr8:90823390..90825028,2	MCF-7	breast:
7	chr8:90801295..90805562-chr8:90810503..90814895,4	MCF-7	breast:
8	chr8:90810531..90814020-chr8:90816566..90819944,3	MCF-7	breast:
9	chr8:90768512..90770810-chr8:90812946..90815331,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251136	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000104312	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11776336	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12156013	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13254219	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13274635	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218935	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs218938	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39501	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs39502	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs39508	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs39511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39512	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs397540	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39762	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs39763	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs39766	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398701	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40248	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40378	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40379	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40380	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40454	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40635	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411310	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs42343	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs42479	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs42480	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425721	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs426779	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs428484	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs43133	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs434264	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs450332	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815039	0.91[AMR][1000 genomes];0.93[EUR][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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
2	chr8:90799400-90814000	Weak transcription	Gastric	stomach
3	chr8:90802600-90814200	Weak transcription	K562	blood
4	chr8:90805400-90817000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:90806200-90814000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:90806400-90814000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:90808000-90814000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:90810200-90814400	Enhancers	Fetal Intestine Large	intestine
9	chr8:90810400-90817000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:90813000-90814200	Enhancers	Fetal Intestine Small	intestine
11	chr8:90813000-90814200	Flanking Active TSS	A549	lung
12	chr8:90813000-90814200	Enhancers	NHLF	lung
13	chr8:90813000-90814400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:90813000-90814400	Enhancers	Liver	Liver
15	chr8:90813000-90814800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:90813200-90814000	Enhancers	Stomach Mucosa	stomach
17	chr8:90813200-90814400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:90813200-90814400	Enhancers	Osteobl	bone
19	chr8:90813200-90814600	Flanking Active TSS	HepG2	liver
20	chr8:90813200-90814600	Enhancers	HMEC	breast
21	chr8:90813400-90814000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr8:90813400-90814200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:90813400-90814200	Enhancers	Hela-S3	cervix
24	chr8:90813400-90814200	Enhancers	NH-A	brain
25	chr8:90813400-90814400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:90813600-90814600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:90813800-90814000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr8:90813800-90814000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:90813800-90814000	Enhancers	HSMM	muscle
30	chr8:90813800-90814200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:90813800-90814200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:90813800-90814200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr8:90813800-90814200	Flanking Active TSS	NHEK	skin
34	chr8:90813800-90814600	ZNF genes & repeats	NHDF-Ad	bronchial
35	chr8:90813800-90815800	Weak transcription	Placenta	Placenta

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