Variant report

Variant	rs7006753
Chromosome Location	chr8:99011997-99011998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99011784..99014375-chr8:99051357..99053193,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10504984	0.89[AMR][1000 genomes]
rs16896534	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16896537	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16896541	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16896577	0.89[AMR][1000 genomes]
rs57475063	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57773259	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6651180	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98992600-99019400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:98994200-99014800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:98994600-99014200	Weak transcription	Ovary	ovary
4	chr8:99003600-99013200	Weak transcription	Brain Anterior Caudate	brain
5	chr8:99007000-99014200	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:99007400-99014000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:99007400-99014000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:99008200-99015400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
10	chr8:99008600-99013000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:99008600-99013400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:99008800-99014200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:99008800-99014200	Weak transcription	HSMM	muscle
14	chr8:99008800-99014200	Weak transcription	NH-A	brain
15	chr8:99008800-99014800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:99009000-99013200	Weak transcription	Hela-S3	cervix
17	chr8:99009000-99013400	Weak transcription	Brain Angular Gyrus	brain
18	chr8:99009000-99016800	Weak transcription	Placenta	Placenta
19	chr8:99009000-99030000	Weak transcription	Pancreas	Pancrea
20	chr8:99009000-99030200	Weak transcription	Esophagus	oesophagus
21	chr8:99009200-99013600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:99009200-99013800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:99009200-99014000	Weak transcription	Osteobl	bone
24	chr8:99009400-99014000	Weak transcription	NHLF	lung
25	chr8:99009600-99013600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:99009600-99022600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:99009800-99014000	Weak transcription	Adipose Nuclei	Adipose
28	chr8:99009800-99014400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:99009800-99014600	Weak transcription	Right Atrium	heart
30	chr8:99010000-99013600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:99010000-99014000	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:99010000-99014200	Weak transcription	NHDF-Ad	bronchial
33	chr8:99010000-99015400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:99010400-99013800	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:99011400-99014200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:99011600-99012400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr8:99011800-99012000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:99011800-99012000	ZNF genes & repeats	Aorta	Aorta
39	chr8:99011800-99012000	Enhancers	Gastric	stomach
40	chr8:99011800-99012600	Strong transcription	Fetal Stomach	stomach
41	chr8:99011800-99015200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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