Variant report

Variant	rs7780423
Chromosome Location	chr7:84802050-84802051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1003292	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1003293	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1016181	0.96[CEU][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1019204	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808059	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11978933	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12669993	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12704114	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465289	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473150	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473151	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17648274	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011449	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159574	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2159580	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191483	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2191489	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372671	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2429689	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2534855	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534856	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534857	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534858	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2534859	0.80[AMR][1000 genomes]
rs2534861	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534862	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534863	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534864	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534868	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534870	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534874	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732747	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2732748	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732750	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732752	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2732759	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732760	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2732761	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732763	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727099	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs718413	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777999	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7779964	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798514	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs976479	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976480	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs976481	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv916645	chr7:84678606-85420011	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv869255	chr7:84678606-85444155	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv888645	chr7:84738495-84842884	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv888646	chr7:84754151-84905855	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7780423	C7orf23	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84801600-84802200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:84801600-84802400	Enhancers	HMEC	breast
3	chr7:84801600-84802400	Enhancers	NHDF-Ad	bronchial
4	chr7:84801600-84802800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:84801800-84802200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:84801800-84802200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:84801800-84802200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:84801800-84802200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:84801800-84802200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:84801800-84802200	Enhancers	Left Ventricle	heart
11	chr7:84801800-84802200	Enhancers	NHEK	skin
12	chr7:84801800-84802200	Enhancers	NHLF	lung
13	chr7:84801800-84802400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:84801800-84802400	Active TSS	Aorta	Aorta
15	chr7:84801800-84802400	Enhancers	Brain Substantia Nigra	brain
16	chr7:84801800-84802400	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr7:84801800-84802400	Enhancers	Fetal Heart	heart
18	chr7:84801800-84802400	Enhancers	Fetal Stomach	stomach
19	chr7:84801800-84802400	Enhancers	HUVEC	blood vessel
20	chr7:84801800-84802400	Enhancers	NH-A	brain
21	chr7:84801800-84802600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:84801800-84802600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:84801800-84802800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr7:84801800-84803000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:84802000-84802200	Enhancers	Brain Anterior Caudate	brain
26	chr7:84802000-84802200	Enhancers	Fetal Kidney	kidney
27	chr7:84802000-84802200	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr7:84802000-84802400	Enhancers	Osteobl	bone
29	chr7:84802000-84803200	Enhancers	Fetal Lung	lung
30	chr7:84802000-84814200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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