Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10043199	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11950934	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs154197	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs154205	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs154207	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17730306	0.86[ASN][1000 genomes]
rs27032	0.88[JPT][hapmap]
rs294031	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs316511	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs316512	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36770	0.81[AMR][1000 genomes]
rs373773	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs382202	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs392711	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs444672	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs456470	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs457151	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs457260	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs468238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs469930	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61637015	0.86[ASN][1000 genomes]
rs719246	0.83[ASN][1000 genomes]
rs977028	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016611	chr5:97873846-98035559	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv537816	chr5:97873846-98035559	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1029509	chr5:97888644-98040172	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv882413	chr5:97918829-98022320	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1832089	chr5:97934125-97976039	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Venous thromboembolism (gene x gene interaction)	23509962	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs467650	RGMB	Cis_1M	lymphoblastoid	RTeQTL
rs467650	SLCO4C1	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97967400-97975000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:97967800-97970600	Weak transcription	NHLF	lung
3	chr5:97967800-97971200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:97968000-97971200	Weak transcription	HSMMtube	muscle
5	chr5:97968200-97970800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:97968200-97971200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:97968200-97971400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:97968400-97970000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:97968400-97971000	Weak transcription	HSMM	muscle
10	chr5:97968600-97969800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:97969200-97970400	Weak transcription	Osteobl	bone
12	chr5:97969200-97970800	Weak transcription	NHDF-Ad	bronchial

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