Variant report

Variant	rs6945398
Chromosome Location	chr7:80171207-80171208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10215822	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10215825	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10229705	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10239813	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10249397	0.95[EUR][1000 genomes]
rs10265053	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10278120	0.95[EUR][1000 genomes]
rs12531594	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12669206	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13222156	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13222395	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13237390	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13242267	0.96[EUR][1000 genomes]
rs13245374	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1464794	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1524601	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1851934	0.80[EUR][1000 genomes]
rs1851937	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1931693	0.96[EUR][1000 genomes]
rs1965524	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1965525	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2091178	0.95[EUR][1000 genomes]
rs2091180	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2210684	0.96[EUR][1000 genomes]
rs2366739	0.80[EUR][1000 genomes]
rs2366741	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28782219	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28850277	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28872565	0.96[EUR][1000 genomes]
rs35136290	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4728156	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4728157	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59057809	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62459940	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6467245	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6944746	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6961824	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7778094	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7797266	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs819446	0.82[EUR][1000 genomes]
rs819447	0.80[EUR][1000 genomes]
rs819451	0.80[EUR][1000 genomes]
rs819452	0.80[EUR][1000 genomes]
rs819453	0.81[EUR][1000 genomes]
rs819454	0.82[EUR][1000 genomes]
rs847544	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1030961	chr7:80032525-80197468	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv538991	chr7:80032525-80197468	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv949205	chr7:80039695-80211200	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv888525	chr7:80148668-80232471	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80159000-80171400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:80168000-80171400	Weak transcription	Adipose Nuclei	Adipose
3	chr7:80168000-80172400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:80168000-80181800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:80168200-80171400	Weak transcription	HMEC	breast
6	chr7:80169800-80172200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:80169800-80172800	Enhancers	NHDF-Ad	bronchial
8	chr7:80170000-80172800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:80170000-80172800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:80170200-80173800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:80171000-80172400	Enhancers	Hela-S3	cervix
12	chr7:80171000-80172800	Enhancers	Osteobl	bone
13	chr7:80171200-80171800	Enhancers	A549	lung
14	chr7:80171200-80172400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:80171200-80172400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:80171200-80172400	Enhancers	NHEK	skin
17	chr7:80171200-80172600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:80171200-80172600	Enhancers	NHLF	lung

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