Variant report

Variant	rs6990426
Chromosome Location	chr8:121377702-121377703
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: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11988416	1.00[ASN][1000 genomes]
rs16893923	1.00[ASN][1000 genomes]
rs4871071	1.00[ASN][1000 genomes]
rs6989609	1.00[ASN][1000 genomes]
rs7006428	1.00[ASN][1000 genomes]
rs7824721	1.00[ASN][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:35 , 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	chr8:121374600-121377800	Weak transcription	Aorta	Aorta
10	chr8:121375400-121379000	Weak transcription	Fetal Lung	lung
11	chr8:121376400-121391000	Weak transcription	Ovary	ovary
12	chr8:121376600-121378000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:121377200-121377800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:121377200-121378000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:121377400-121378000	Enhancers	HSMMtube	muscle
16	chr8:121377400-121378200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:121377400-121378200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr8:121377400-121378200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:121377400-121378200	Enhancers	Rectal Smooth Muscle	rectum
20	chr8:121377400-121378200	Enhancers	HSMM	muscle
21	chr8:121377400-121378200	Enhancers	HUVEC	blood vessel
22	chr8:121377400-121378200	Enhancers	NHEK	skin
23	chr8:121377400-121378400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:121377400-121378400	Enhancers	HMEC	breast
25	chr8:121377400-121378600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:121377400-121378800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:121377400-121379200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:121377400-121379200	Enhancers	NH-A	brain
29	chr8:121377600-121377800	Enhancers	NHLF	lung
30	chr8:121377600-121377800	Enhancers	Osteobl	bone
31	chr8:121377600-121378200	Flanking Active TSS	Hela-S3	cervix
32	chr8:121377600-121378200	Flanking Active TSS	NHDF-Ad	bronchial
33	chr8:121377600-121378400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:121377600-121378800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:121377600-121379200	Enhancers	Colon Smooth Muscle	Colon

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