Variant report

Variant	rs72674682
Chromosome Location	chr8:100623848-100623849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16897681	1.00[ASN][1000 genomes]
rs17324397	0.85[AMR][1000 genomes]
rs55872262	1.00[ASN][1000 genomes]
rs6997635	1.00[ASN][1000 genomes]
rs72672386	1.00[ASN][1000 genomes]
rs72674604	1.00[ASN][1000 genomes]
rs72674630	1.00[ASN][1000 genomes]
rs72674632	1.00[ASN][1000 genomes]
rs72674659	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72674660	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72674688	1.00[ASN][1000 genomes]
rs7842833	1.00[ASN][1000 genomes]
rs7845386	1.00[ASN][1000 genomes]
rs9693641	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1023922	chr8:100474230-100702005	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
12	nsv831408	chr8:100523523-100721507	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1033795	chr8:100557344-100666640	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100598400-100631200	Weak transcription	Left Ventricle	heart
2	chr8:100598800-100625000	Weak transcription	Adipose Nuclei	Adipose
3	chr8:100599400-100630800	Weak transcription	Primary T cells from cord blood	blood
4	chr8:100599400-100632400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:100602600-100631200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:100610000-100624000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:100610000-100624400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr8:100617600-100624200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:100619000-100629600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:100619200-100624200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:100619200-100624400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:100619200-100624600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:100619200-100627600	Weak transcription	Fetal Intestine Large	intestine
14	chr8:100619200-100631200	Weak transcription	Aorta	Aorta
15	chr8:100619400-100624200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:100619600-100624400	Weak transcription	Fetal Heart	heart
17	chr8:100619600-100625000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:100620200-100625600	Weak transcription	HSMM	muscle
19	chr8:100621800-100624400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:100622000-100624200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:100622000-100630600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:100622200-100624400	Weak transcription	NHDF-Ad	bronchial
23	chr8:100622200-100630200	Weak transcription	Osteobl	bone
24	chr8:100622200-100631200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:100622200-100655400	Weak transcription	Primary B cells from cord blood	blood
26	chr8:100622400-100624600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:100622400-100624600	Weak transcription	NHLF	lung
28	chr8:100623200-100624200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:100623800-100625200	Enhancers	Colon Smooth Muscle	Colon

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