Variant report

Variant	rs327721
Chromosome Location	chr7:80840786-80840787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs172911	0.83[AMR][1000 genomes]
rs179174	0.83[AMR][1000 genomes]
rs182752	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327628	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327629	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327641	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327642	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327643	0.83[AMR][1000 genomes]
rs327645	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327646	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327648	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327713	0.83[AMR][1000 genomes]
rs327714	0.83[AMR][1000 genomes]
rs327715	0.83[AMR][1000 genomes]
rs327717	0.83[AMR][1000 genomes]
rs327722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327740	0.83[AMR][1000 genomes]
rs327741	0.83[AMR][1000 genomes]
rs327748	0.83[AMR][1000 genomes]
rs475840	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475847	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59506860	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74271	0.83[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	chr7:80837600-80840800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:80838000-80841800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:80838000-80841800	Enhancers	NHDF-Ad	bronchial
4	chr7:80838400-80840800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:80838400-80841400	Enhancers	NHLF	lung
6	chr7:80838400-80841400	Enhancers	Osteobl	bone
7	chr7:80838400-80841600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:80838400-80841600	Enhancers	A549	lung
9	chr7:80838400-80841600	Enhancers	HSMM	muscle
10	chr7:80838800-80841000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:80839400-80841600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:80839600-80841400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:80839600-80841600	Enhancers	NH-A	brain
14	chr7:80839800-80840800	Active TSS	Fetal Muscle Leg	muscle
15	chr7:80839800-80840800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:80839800-80840800	Weak transcription	K562	blood
17	chr7:80839800-80841000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:80840200-80841400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:80840400-80840800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:80840600-80841000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:80840600-80843200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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