Variant report

Variant	rs327723
Chromosome Location	chr7:80841340-80841341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80840881..80842505-chr7:80847101..80849411,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1509917	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509922	0.92[EUR][1000 genomes]
rs179173	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs186609	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2079435	0.82[EUR][1000 genomes]
rs2136610	0.82[EUR][1000 genomes]
rs2367229	0.82[EUR][1000 genomes]
rs327644	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs327647	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs327649	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs327712	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327716	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327718	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327719	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327720	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327733	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs327734	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs327735	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs327736	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs327737	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs327738	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs327739	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs327742	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs327744	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs327745	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs327747	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7788304	0.95[EUR][1000 genomes]
rs7798237	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7807571	0.89[EUR][1000 genomes];0.90[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	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv888557	chr7:80813081-80917148	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1023149	chr7:80817550-80928090	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1029034	chr7:80838012-81137146	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80838000-80841800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:80838000-80841800	Enhancers	NHDF-Ad	bronchial
3	chr7:80838400-80841400	Enhancers	NHLF	lung
4	chr7:80838400-80841400	Enhancers	Osteobl	bone
5	chr7:80838400-80841600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:80838400-80841600	Enhancers	A549	lung
7	chr7:80838400-80841600	Enhancers	HSMM	muscle
8	chr7:80839400-80841600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:80839600-80841400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:80839600-80841600	Enhancers	NH-A	brain
11	chr7:80840200-80841400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:80840600-80843200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:80840800-80841400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:80840800-80841600	Enhancers	K562	blood
15	chr7:80840800-80841800	Enhancers	Fetal Muscle Leg	muscle
16	chr7:80840800-80843000	Enhancers	Primary hematopoietic stem cells	blood
17	chr7:80841000-80841400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:80841000-80841400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:80841000-80841400	Enhancers	HSMMtube	muscle
20	chr7:80841000-80841800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:80841000-80841800	Enhancers	HUVEC	blood vessel
22	chr7:80841000-80843000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:80841200-80841600	Enhancers	Colon Smooth Muscle	Colon

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