Variant report

Variant	rs62575263
Chromosome Location	chr9:118353966-118353967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:118353398..118354353-chr9:119423269..119423966,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12000608	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12002475	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12003493	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2188068	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62575261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62575306	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62575307	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62575309	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62575310	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62575313	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62576528	0.90[AFR][1000 genomes]
rs62576529	0.90[AFR][1000 genomes]
rs62576536	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62576537	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62576538	0.85[AMR][1000 genomes]
rs62576539	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62576662	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62576663	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62576664	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62576666	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62576667	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62576696	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62576698	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62576702	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72755374	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72757379	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72759322	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763123	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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
rs62575263	RP11-445L6.3	cis	Artery Tibial	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118351400-118354800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr9:118351400-118357400	Enhancers	HMEC	breast
3	chr9:118351600-118354000	Enhancers	Hela-S3	cervix
4	chr9:118351600-118358200	Enhancers	Osteobl	bone
5	chr9:118351800-118355000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:118351800-118358200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:118351800-118358200	Enhancers	NHDF-Ad	bronchial
8	chr9:118352000-118354800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:118352000-118355000	Enhancers	NH-A	brain
10	chr9:118352600-118354200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:118352600-118356200	Weak transcription	Fetal Lung	lung
12	chr9:118352800-118358400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:118353000-118354000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:118353000-118354000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:118353000-118354000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:118353000-118354000	Weak transcription	HSMMtube	muscle
17	chr9:118353000-118354000	Weak transcription	NHEK	skin
18	chr9:118353000-118354200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:118353000-118354200	Weak transcription	HSMM	muscle
20	chr9:118353200-118354000	Weak transcription	HUVEC	blood vessel
21	chr9:118353200-118354200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:118353400-118354200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:118353400-118354400	Enhancers	Placenta	Placenta
24	chr9:118353600-118354000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:118353600-118354000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:118353600-118354000	Weak transcription	NHLF	lung
27	chr9:118353800-118354000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr9:118353800-118354200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr9:118353800-118354200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:118353800-118354200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr9:118353800-118354400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:118353800-118354400	Enhancers	Adipose Nuclei	Adipose
33	chr9:118353800-118358800	Enhancers	A549	lung

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