Variant report

Variant	rs72680575
Chromosome Location	chr8:121598505-121598506
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	chr8:121590814..121592983-chr8:121597409..121599196,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55905845	1.00[AFR][1000 genomes]
rs72678286	1.00[AFR][1000 genomes]
rs72680548	1.00[AFR][1000 genomes]
rs72682511	1.00[AFR][1000 genomes]
rs72682515	1.00[AFR][1000 genomes]
rs72682524	1.00[AFR][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	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121585000-121601600	Weak transcription	Fetal Lung	lung
2	chr8:121587200-121623000	Weak transcription	Fetal Intestine Small	intestine
3	chr8:121587400-121600400	Weak transcription	Fetal Kidney	kidney
4	chr8:121587600-121600000	Weak transcription	Aorta	Aorta
5	chr8:121587800-121609200	Weak transcription	Fetal Stomach	stomach
6	chr8:121587800-121611000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr8:121588400-121610000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
11	chr8:121589600-121602200	Weak transcription	Primary T cells from cord blood	blood
12	chr8:121592600-121600000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:121593200-121599800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:121594200-121605400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:121596800-121598800	Enhancers	Fetal Muscle Leg	muscle
16	chr8:121596800-121599000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:121596800-121599000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr8:121596800-121599000	Enhancers	Hela-S3	cervix
19	chr8:121596800-121599200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:121596800-121599200	Enhancers	NHDF-Ad	bronchial
21	chr8:121596800-121602400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:121596800-121604400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:121596800-121606200	Enhancers	NHLF	lung
24	chr8:121596800-121606400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:121597000-121598800	Enhancers	Adipose Nuclei	Adipose
26	chr8:121597000-121599000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:121597000-121605000	Enhancers	HSMMtube	muscle
28	chr8:121597200-121598600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr8:121597200-121598800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:121597200-121599000	Enhancers	Liver	Liver
31	chr8:121597200-121600400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:121597400-121598800	Enhancers	HSMM	muscle
33	chr8:121597600-121598600	Weak transcription	Left Ventricle	heart
34	chr8:121597600-121598600	Genic enhancers	HepG2	liver
35	chr8:121597600-121601400	Weak transcription	Gastric	stomach
36	chr8:121597600-121601400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:121597600-121602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:121597800-121598600	Weak transcription	Lung	lung
39	chr8:121597800-121598600	Weak transcription	Pancreas	Pancrea
40	chr8:121597800-121598600	Weak transcription	Right Atrium	heart
41	chr8:121597800-121613200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:121598000-121598600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr8:121598000-121598600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr8:121598000-121598800	Enhancers	Colon Smooth Muscle	Colon
45	chr8:121598000-121599800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:121598200-121598800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr8:121598200-121599000	Enhancers	Psoas Muscle	Psoas
48	chr8:121598200-121600000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:121598200-121601000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:121598200-121601800	Weak transcription	NH-A	brain

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