Variant report

Variant	rs327717
Chromosome Location	chr7:80839478-80839479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs172911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs179174	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs182752	0.83[AMR][1000 genomes]
rs325969	0.80[AFR][1000 genomes]
rs325981	0.92[YRI][hapmap]
rs325982	0.91[YRI][hapmap]
rs327628	0.83[AMR][1000 genomes]
rs327629	0.83[AMR][1000 genomes]
rs327641	0.83[AMR][1000 genomes]
rs327642	0.83[AMR][1000 genomes]
rs327643	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327645	0.83[AMR][1000 genomes]
rs327646	0.83[AMR][1000 genomes]
rs327648	0.83[AMR][1000 genomes]
rs327713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327721	0.83[AMR][1000 genomes]
rs327722	0.83[AMR][1000 genomes]
rs327740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327748	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475840	0.83[AMR][1000 genomes]
rs475847	0.83[AMR][1000 genomes]
rs59506860	0.83[AMR][1000 genomes]
rs74271	0.97[AFR][1000 genomes];1.00[AMR][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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80837000-80839600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:80837400-80839800	Enhancers	K562	blood
3	chr7:80837600-80839800	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:80837600-80840800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:80838000-80841800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:80838000-80841800	Enhancers	NHDF-Ad	bronchial
7	chr7:80838200-80839800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:80838400-80840800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:80838400-80841400	Enhancers	NHLF	lung
10	chr7:80838400-80841400	Enhancers	Osteobl	bone
11	chr7:80838400-80841600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:80838400-80841600	Enhancers	A549	lung
13	chr7:80838400-80841600	Enhancers	HSMM	muscle
14	chr7:80838600-80839600	Weak transcription	NH-A	brain
15	chr7:80838800-80840200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:80838800-80840600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:80838800-80841000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:80839200-80839800	Enhancers	Rectal Smooth Muscle	rectum
19	chr7:80839200-80840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:80839400-80839600	Enhancers	Colon Smooth Muscle	Colon
21	chr7:80839400-80841600	Enhancers	Muscle Satellite Cultured Cells	--

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