Variant report

Variant	rs147923749
Chromosome Location	chr8:62454244-62454245
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	esv3418272	chr8:62453156-62455091	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:62412000-62455600	Strong transcription	A549	lung
4	chr8:62414200-62455400	Weak transcription	Fetal Lung	lung
5	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
6	chr8:62421200-62456400	Weak transcription	Psoas Muscle	Psoas
7	chr8:62422600-62455400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:62423200-62456200	Weak transcription	Stomach Mucosa	stomach
9	chr8:62427000-62468600	Weak transcription	Fetal Thymus	thymus
10	chr8:62428000-62458600	Weak transcription	Fetal Intestine Small	intestine
11	chr8:62428000-62463800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:62429600-62463000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:62430000-62464400	Weak transcription	Brain Anterior Caudate	brain
14	chr8:62430000-62467200	Weak transcription	Right Ventricle	heart
15	chr8:62430400-62487400	Weak transcription	Colonic Mucosa	Colon
16	chr8:62430600-62479600	Weak transcription	Brain Substantia Nigra	brain
17	chr8:62431600-62455600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:62431600-62455600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:62431600-62456000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:62432400-62455000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:62434200-62463400	Weak transcription	Spleen	Spleen
22	chr8:62434400-62455600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:62438400-62458200	Weak transcription	HepG2	liver
24	chr8:62439400-62455000	Weak transcription	Fetal Intestine Large	intestine
25	chr8:62440600-62462800	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:62440800-62455200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:62440800-62457400	Weak transcription	NHLF	lung
28	chr8:62440800-62457600	Weak transcription	Esophagus	oesophagus
29	chr8:62440800-62463000	Weak transcription	Pancreas	Pancrea
30	chr8:62441800-62455200	Weak transcription	HSMMtube	muscle
31	chr8:62442600-62493200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:62443400-62455000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:62444400-62455200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:62445600-62455400	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:62446000-62461600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:62447600-62456000	Weak transcription	Hela-S3	cervix
37	chr8:62447800-62457600	Weak transcription	Left Ventricle	heart
38	chr8:62448000-62454800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:62448400-62456000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr8:62448800-62455400	Strong transcription	Adipose Nuclei	Adipose
41	chr8:62449400-62461600	Strong transcription	NH-A	brain
42	chr8:62449800-62463000	Weak transcription	Lung	lung
43	chr8:62449800-62463200	Weak transcription	HUVEC	blood vessel
44	chr8:62449800-62503600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:62450000-62455800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:62450000-62457600	Weak transcription	Aorta	Aorta
47	chr8:62450800-62454600	Weak transcription	NHDF-Ad	bronchial
48	chr8:62451400-62467000	Weak transcription	Placenta	Placenta
49	chr8:62451600-62459000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:62451600-62473200	Weak transcription	Fetal Kidney	kidney

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