Variant report

Variant	rs72652153
Chromosome Location	chr8:69837336-69837337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16935048	1.00[ASN][1000 genomes]
rs34207383	1.00[ASN][1000 genomes]
rs57043258	1.00[ASN][1000 genomes]
rs57996050	1.00[ASN][1000 genomes]
rs58757685	1.00[ASN][1000 genomes]
rs59404825	1.00[ASN][1000 genomes]
rs60283435	1.00[ASN][1000 genomes]
rs68191047	1.00[ASN][1000 genomes]
rs6999003	1.00[ASN][1000 genomes]
rs71517216	1.00[ASN][1000 genomes]
rs72668533	1.00[ASN][1000 genomes]
rs73289410	1.00[ASN][1000 genomes]
rs73683711	1.00[ASN][1000 genomes]
rs73683724	1.00[ASN][1000 genomes]
rs73683725	1.00[ASN][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	nsv1033122	chr8:69728620-69843088	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1031633	chr8:69766575-70322790	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv33049	chr8:69836813-69943360	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69831600-69839000	Enhancers	HSMM	muscle
2	chr8:69832000-69838200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:69832200-69840600	Enhancers	Osteobl	bone
4	chr8:69833200-69837600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:69833200-69841200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:69833800-69837600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:69835000-69837800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:69835400-69837600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:69836000-69848000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:69836200-69838800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:69836400-69837600	Enhancers	HSMMtube	muscle
12	chr8:69836400-69838400	Enhancers	NH-A	brain
13	chr8:69836400-69838400	Enhancers	NHLF	lung
14	chr8:69836400-69838800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:69836400-69838800	Enhancers	HMEC	breast
16	chr8:69836400-69838800	Enhancers	NHDF-Ad	bronchial
17	chr8:69836400-69838800	Enhancers	NHEK	skin
18	chr8:69836600-69837800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:69836600-69838800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:69836800-69837400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:69837000-69837400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:69837000-69837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:69837000-69837800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:69837000-69838200	Enhancers	Colon Smooth Muscle	Colon
25	chr8:69837000-69838200	Enhancers	Rectal Smooth Muscle	rectum

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