Variant report

Variant	rs16893983
Chromosome Location	chr8:121378261-121378262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121372776..121375145-chr8:121376209..121379714,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10098378	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10808510	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11775273	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12674802	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4269581	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4311691	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4392947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4442180	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4567082	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4870729	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4871061	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56074613	0.96[AFR][1000 genomes]
rs6999683	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9297617	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[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	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv612112	chr8:121234298-121385167	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	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
4	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121333800-121383800	Weak transcription	Fetal Intestine Large	intestine
2	chr8:121365200-121380600	Weak transcription	Gastric	stomach
3	chr8:121369600-121406200	Weak transcription	Left Ventricle	heart
4	chr8:121372400-121383000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:121373200-121383000	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:121373400-121381800	Weak transcription	Fetal Intestine Small	intestine
7	chr8:121374000-121381600	Weak transcription	Placenta	Placenta
8	chr8:121374400-121379000	Weak transcription	Fetal Stomach	stomach
9	chr8:121375400-121379000	Weak transcription	Fetal Lung	lung
10	chr8:121376400-121391000	Weak transcription	Ovary	ovary
11	chr8:121377400-121378400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:121377400-121378400	Enhancers	HMEC	breast
13	chr8:121377400-121378600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:121377400-121378800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:121377400-121379200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:121377400-121379200	Enhancers	NH-A	brain
17	chr8:121377600-121378400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:121377600-121378800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:121377600-121379200	Enhancers	Colon Smooth Muscle	Colon
20	chr8:121377800-121379200	Enhancers	Aorta	Aorta
21	chr8:121378000-121378800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:121378000-121379000	Enhancers	Fetal Heart	heart
23	chr8:121378000-121379200	Enhancers	Osteobl	bone
24	chr8:121378000-121382000	Weak transcription	HSMMtube	muscle
25	chr8:121378200-121378400	Enhancers	Hela-S3	cervix
26	chr8:121378200-121379200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:121378200-121379400	Enhancers	NHLF	lung
28	chr8:121378200-121379600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:121378200-121379800	Enhancers	NHDF-Ad	bronchial
30	chr8:121378200-121380200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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