Variant report

Variant	rs62575313
Chromosome Location	chr9:118401534-118401535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12000608	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2188068	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62575261	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62575263	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62575306	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62575307	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62575309	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62575310	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62575331	0.88[AFR][1000 genomes]
rs62576696	0.87[ASN][1000 genomes]
rs62576698	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62576702	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72757379	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72759322	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72763123	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72764714	0.80[AFR][1000 genomes]
rs72764716	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv948346	chr9:118107565-118718197	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1046948	chr9:118185587-118926891	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv916622	chr9:118206309-118952390	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv540207	chr9:118206311-118920304	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv491661	chr9:118206312-118802177	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv831698	chr9:118284259-118446456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1047164	chr9:118286742-118456851	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62575313	RP11-445L6.3	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118395800-118402800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:118395800-118403000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:118399400-118402800	Weak transcription	HMEC	breast
4	chr9:118399600-118402800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:118399800-118402800	Weak transcription	NHEK	skin
6	chr9:118400400-118404000	Weak transcription	Fetal Stomach	stomach
7	chr9:118400600-118402800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:118400600-118403000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:118400600-118403000	Weak transcription	NHLF	lung
10	chr9:118401200-118402800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:118401200-118402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:118401200-118402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:118401200-118402800	Weak transcription	HSMMtube	muscle
14	chr9:118401200-118402800	Weak transcription	NHDF-Ad	bronchial
15	chr9:118401200-118402800	Weak transcription	Osteobl	bone
16	chr9:118401400-118402800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:118401400-118402800	Weak transcription	HSMM	muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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