Variant report

Variant	rs73694495
Chromosome Location	chr8:90813676-90813677
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:90811959..90814919-chr8:90863666..90865460,3	MCF-7	breast:
2	chr8:90788397..90791255-chr8:90811983..90814369,2	MCF-7	breast:
3	chr8:90808879..90811361-chr8:90813296..90815805,3	K562	blood:
4	chr8:90812521..90814949-chr8:90913581..90915961,2	MCF-7	breast:
5	chr8:90812604..90815452-chr8:90823390..90825028,2	MCF-7	breast:
6	chr8:90801295..90805562-chr8:90810503..90814895,4	MCF-7	breast:
7	chr8:90810531..90814020-chr8:90816566..90819944,3	MCF-7	breast:
8	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: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16900442	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16900702	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694489	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694500	0.83[AMR][1000 genomes]
rs7835597	0.83[AMR][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	chr8:90785600-90813800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:90799400-90814000	Weak transcription	Gastric	stomach
4	chr8:90802600-90814200	Weak transcription	K562	blood
5	chr8:90803600-90813800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:90805400-90817000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:90806200-90814000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:90806400-90814000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr8:90808000-90814000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:90808800-90813800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:90810000-90813800	Weak transcription	HSMM	muscle
12	chr8:90810200-90813800	Enhancers	Placenta	Placenta
13	chr8:90810200-90814400	Enhancers	Fetal Intestine Large	intestine
14	chr8:90810400-90817000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:90812000-90813800	Weak transcription	NHDF-Ad	bronchial
16	chr8:90813000-90813800	Enhancers	NHEK	skin
17	chr8:90813000-90814200	Enhancers	Fetal Intestine Small	intestine
18	chr8:90813000-90814200	Flanking Active TSS	A549	lung
19	chr8:90813000-90814200	Enhancers	NHLF	lung
20	chr8:90813000-90814400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:90813000-90814400	Enhancers	Liver	Liver
22	chr8:90813000-90814800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:90813200-90814000	Enhancers	Stomach Mucosa	stomach
24	chr8:90813200-90814400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:90813200-90814400	Enhancers	Osteobl	bone
26	chr8:90813200-90814600	Flanking Active TSS	HepG2	liver
27	chr8:90813200-90814600	Enhancers	HMEC	breast
28	chr8:90813400-90813800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:90813400-90813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:90813400-90814000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr8:90813400-90814200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:90813400-90814200	Enhancers	Hela-S3	cervix
33	chr8:90813400-90814200	Enhancers	NH-A	brain
34	chr8:90813400-90814400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:90813600-90814600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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