Variant report

Variant	rs2993000
Chromosome Location	chr9:73567734-73567735
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10511994	0.83[ASN][1000 genomes]
rs12377705	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13284434	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13302269	1.00[ASN][1000 genomes]
rs1337020	0.83[ASN][1000 genomes]
rs2184851	0.89[ASN][1000 genomes]
rs2909300	0.81[ASN][1000 genomes]
rs2993002	0.83[ASN][1000 genomes]
rs2993003	0.83[ASN][1000 genomes]
rs35806768	0.86[ASN][1000 genomes]
rs35851123	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62543183	0.90[EUR][1000 genomes]
rs62543204	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7021501	0.81[ASN][1000 genomes]
rs7022875	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7039571	0.83[ASN][1000 genomes]
rs7043058	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv893441	chr9:73486034-73594114	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv430072	chr9:73509677-73640530	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73562800-73568200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:73563000-73569000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr9:73563600-73567800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr9:73563600-73568600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:73563800-73568600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:73563800-73568600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:73563800-73568600	Weak transcription	HMEC	breast
8	chr9:73563800-73568600	Weak transcription	NHEK	skin
9	chr9:73564000-73569200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:73565800-73568200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:73565800-73568400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:73566600-73568600	Enhancers	Osteobl	bone
13	chr9:73566600-73568800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:73566600-73570800	Enhancers	NHDF-Ad	bronchial
15	chr9:73566800-73568000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr9:73566800-73570400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:73567000-73568000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:73567000-73571000	Enhancers	HSMM	muscle
19	chr9:73567000-73571000	Enhancers	HSMMtube	muscle
20	chr9:73567200-73568600	Weak transcription	Aorta	Aorta
21	chr9:73567200-73570000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr9:73567200-73571200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:73567400-73568400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:73567600-73568000	Enhancers	Placenta	Placenta
25	chr9:73567600-73568600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:73567600-73568600	Enhancers	NH-A	brain
27	chr9:73567600-73568600	Enhancers	NHLF	lung
28	chr9:73567600-73569000	Weak transcription	Fetal Heart	heart
29	chr9:73567600-73569800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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