Variant report

Variant	rs7014820
Chromosome Location	chr8:100624507-100624508
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10087831	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs10282867	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28497752	1.00[AMR][1000 genomes]
rs9297290	1.00[AMR][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:32 , 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	chr8:100619000-100629600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:100619200-100624600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:100619200-100627600	Weak transcription	Fetal Intestine Large	intestine
9	chr8:100619200-100631200	Weak transcription	Aorta	Aorta
10	chr8:100619600-100625000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:100620200-100625600	Weak transcription	HSMM	muscle
12	chr8:100622000-100630600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:100622200-100630200	Weak transcription	Osteobl	bone
14	chr8:100622200-100631200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:100622200-100655400	Weak transcription	Primary B cells from cord blood	blood
16	chr8:100622400-100624600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:100622400-100624600	Weak transcription	NHLF	lung
18	chr8:100623800-100625200	Enhancers	Colon Smooth Muscle	Colon
19	chr8:100624200-100624600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:100624200-100625000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:100624200-100625200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:100624200-100625600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:100624400-100624600	Active TSS	Stomach Smooth Muscle	stomach
24	chr8:100624400-100624800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:100624400-100624800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr8:100624400-100624800	Enhancers	NHDF-Ad	bronchial
27	chr8:100624400-100625000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr8:100624400-100625200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:100624400-100625200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:100624400-100625200	Enhancers	Ovary	ovary
31	chr8:100624400-100625200	Enhancers	K562	blood
32	chr8:100624400-100626200	Enhancers	Fetal Heart	heart

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