Variant report

Variant	rs2190278
Chromosome Location	chr7:18931305-18931306
allele	C/T
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]
rs10252945	0.83[CEU][hapmap];0.98[GIH][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs10253444	0.89[EUR][1000 genomes]
rs10261390	0.88[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10261942	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10274006	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10276724	0.83[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10277631	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11768780	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12700010	0.82[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13239610	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17350236	0.83[CEU][hapmap];0.90[JPT][hapmap]
rs17350341	0.88[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17350383	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs17350397	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350431	0.88[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2024022	0.88[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2190277	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301950	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34205559	0.83[ASN][1000 genomes]
rs71524255	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71524256	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[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	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv523497	chr7:18896011-18959381	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2756248	chr7:18911960-18977760	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1030062	chr7:18915874-18943409	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv887815	chr7:18931219-18958942	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18903000-18940000	Weak transcription	Aorta	Aorta
2	chr7:18929200-18931400	Enhancers	NHDF-Ad	bronchial
3	chr7:18929200-18931600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:18930000-18932800	Weak transcription	HMEC	breast
5	chr7:18930000-18934400	Weak transcription	Osteobl	bone
6	chr7:18930000-18934800	Weak transcription	HUVEC	blood vessel
7	chr7:18930200-18934800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:18930400-18931400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:18930800-18931400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:18930800-18931400	Enhancers	Fetal Stomach	stomach
11	chr7:18930800-18934600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:18931000-18931400	Enhancers	Right Atrium	heart
13	chr7:18931000-18934600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:18931200-18933400	Weak transcription	Fetal Heart	heart
15	chr7:18931200-18934400	Weak transcription	NHLF	lung
16	chr7:18931200-18943400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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