Variant report

Variant	rs4945741
Chromosome Location	chr6:106512780-106512781
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	chr6:106511817..106514767-chr6:106525243..106527594,2	K562	blood:
2	chr6:106511935..106514497-chr6:106518179..106520674,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1010273	0.83[JPT][hapmap]
rs4555967	0.97[ASN][1000 genomes]
rs4946725	0.83[JPT][hapmap]
rs58670852	0.93[ASN][1000 genomes]
rs58813384	0.98[ASN][1000 genomes]
rs6925611	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931212	0.88[AFR][1000 genomes]
rs6931248	0.89[AFR][1000 genomes]
rs7747748	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9373831	0.94[ASN][1000 genomes]
rs9384595	1.00[ASN][1000 genomes]
rs9384597	0.98[ASN][1000 genomes]
rs9384598	0.96[ASN][1000 genomes]
rs9386506	1.00[ASN][1000 genomes]
rs9386507	1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[ASN][1000 genomes]
rs9386508	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs9386509	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs9398060	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs9398061	0.94[ASN][1000 genomes]
rs9398062	1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025231	chr6:106451012-106634389	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830755	chr6:106461705-106624202	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4945741	OSTM1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106510000-106516400	Strong transcription	Fetal Intestine Large	intestine
2	chr6:106510400-106512800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:106510600-106512800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:106510600-106512800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:106510600-106512800	Enhancers	HSMM	muscle
6	chr6:106510600-106512800	Enhancers	NHEK	skin
7	chr6:106510600-106513000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:106510600-106513000	Enhancers	HSMMtube	muscle
9	chr6:106510600-106513000	Enhancers	NHDF-Ad	bronchial
10	chr6:106510600-106513200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:106510800-106513000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:106510800-106513000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:106510800-106513000	Enhancers	Osteobl	bone
14	chr6:106511000-106513800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:106511200-106513000	Enhancers	Fetal Heart	heart
16	chr6:106511200-106513000	Enhancers	NHLF	lung
17	chr6:106511600-106513000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:106512000-106514400	Strong transcription	Fetal Intestine Small	intestine
19	chr6:106512200-106512800	Enhancers	Left Ventricle	heart
20	chr6:106512200-106517400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:106512400-106515200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:106512600-106514400	Weak transcription	Pancreas	Pancrea
23	chr6:106512600-106514800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:106512600-106517200	Weak transcription	HMEC	breast
25	chr6:106512600-106517200	Weak transcription	NH-A	brain
26	chr6:106512600-106517400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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