Variant report

Variant	rs41319847
Chromosome Location	chr8:124563011-124563012
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	chr8:124560690..124563548-chr8:124570641..124572984,3	MCF-7	breast:
2	chr8:124562347..124564548-chr8:124566856..124570361,3	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13256806	0.86[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs2385447	0.96[ASN][1000 genomes]
rs4870856	0.86[ASN][1000 genomes]
rs7816943	0.86[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs7840558	0.86[ASN][1000 genomes]
rs9642867	0.86[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv525827	chr8:124555235-124565311	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124554400-124563600	Weak transcription	Aorta	Aorta
2	chr8:124554600-124563400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:124554600-124563600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:124558800-124571400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:124559400-124563400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:124559400-124564800	Weak transcription	Fetal Lung	lung
7	chr8:124559400-124564800	Weak transcription	Fetal Stomach	stomach
8	chr8:124559600-124564800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:124560400-124563400	Weak transcription	Ovary	ovary
10	chr8:124561000-124563200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:124561000-124563400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:124561200-124563400	Weak transcription	Esophagus	oesophagus
13	chr8:124562400-124563800	Enhancers	NHLF	lung
14	chr8:124562400-124564800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:124562400-124564800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:124562400-124565000	Enhancers	Osteobl	bone
17	chr8:124562400-124565200	Enhancers	NHEK	skin
18	chr8:124562400-124566000	Enhancers	Adipose Nuclei	Adipose
19	chr8:124562600-124563200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:124562600-124564000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:124562600-124564000	Enhancers	HSMM	muscle
22	chr8:124562600-124565400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:124562600-124565400	Enhancers	HSMMtube	muscle
24	chr8:124562600-124565800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:124562600-124565800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:124562600-124565800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:124562600-124566000	Enhancers	HMEC	breast
28	chr8:124562600-124566000	Enhancers	NHDF-Ad	bronchial
29	chr8:124562800-124565400	Enhancers	NH-A	brain
30	chr8:124563000-124563200	Enhancers	Rectal Smooth Muscle	rectum

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