Variant report

Variant	rs9630346
Chromosome Location	chr13:85220475-85220476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12100200	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13313254	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13378761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28456198	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650461	0.86[ASN][1000 genomes]
rs9319065	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9546772	0.86[ASN][1000 genomes]
rs9546774	0.86[ASN][1000 genomes]
rs9546775	0.86[ASN][1000 genomes]
rs9565955	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565966	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9565967	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9575612	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9575613	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9575621	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9575623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9575636	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9602523	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9602524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9602525	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949402	chr13:84675752-85606846	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv456046	chr13:84971270-85262508	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv562561	chr13:84971270-85262508	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv900691	chr13:85206473-85294881	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv1851778	chr13:85206473-85299207	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv900692	chr13:85218788-85294881	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85218600-85222400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:85218800-85220600	Enhancers	Osteobl	bone
3	chr13:85219200-85225200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:85219400-85220600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:85219800-85227600	Weak transcription	Right Ventricle	heart
6	chr13:85219800-85229800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:85220000-85221000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:85220000-85224000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:85220000-85224000	Weak transcription	NHEK	skin
10	chr13:85220000-85225400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:85220200-85223800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:85220200-85224000	Weak transcription	NH-A	brain
13	chr13:85220200-85225600	Weak transcription	Left Ventricle	heart
14	chr13:85220400-85220800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:85220400-85220800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr13:85220400-85220800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:85220400-85228200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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