Variant report

Variant	rs72762372
Chromosome Location	chr9:117997156-117997157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1029341	0.81[EUR][1000 genomes]
rs10481680	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10817734	0.80[EUR][1000 genomes]
rs10817741	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10817742	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12001569	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12338583	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12348813	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285315	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2418327	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35686252	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147051	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72762378	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72764238	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7846857	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv615251	chr9:117975864-118514444	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv6682	chr9:117984059-118000427	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117985000-118000600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:117988800-117997600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:117995400-117997400	Enhancers	HMEC	breast
4	chr9:117995400-117997800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:117995400-117997800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:117996000-117997200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:117996000-117997800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:117996000-117998200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:117996200-117997200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:117996200-117997200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:117996200-117997200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:117996200-117997200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr9:117996200-117997200	Enhancers	NH-A	brain
14	chr9:117996200-117997200	Enhancers	NHLF	lung
15	chr9:117996200-117997200	Enhancers	Osteobl	bone
16	chr9:117996200-117997400	Enhancers	HSMM	muscle
17	chr9:117996200-117997600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:117996200-117997800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:117996200-117997800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:117996200-117997800	Enhancers	NHDF-Ad	bronchial
21	chr9:117996400-118001800	Weak transcription	Esophagus	oesophagus
22	chr9:117996800-117997400	Enhancers	NHEK	skin
23	chr9:117997000-117997200	Active TSS	Stomach Smooth Muscle	stomach
24	chr9:117997000-117997200	Enhancers	HSMMtube	muscle
25	chr9:117997000-117999600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:117997000-118003800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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