Variant report

Variant	rs543644016
Chromosome Location	chr8:42813518-42813519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	esv1799802	chr8:42812599-42821666	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
2	chr8:42772600-42815400	Weak transcription	Gastric	stomach
3	chr8:42772600-42815400	Weak transcription	Psoas Muscle	Psoas
4	chr8:42775600-42814400	Weak transcription	Right Ventricle	heart
5	chr8:42776000-42814400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
7	chr8:42776400-42814200	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:42777400-42814400	Weak transcription	Spleen	Spleen
9	chr8:42779200-42815800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:42781200-42814400	Weak transcription	Pancreas	Pancrea
11	chr8:42782600-42815400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:42787800-42814200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:42787800-42820200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:42788000-42814200	Weak transcription	Brain Anterior Caudate	brain
15	chr8:42788000-42815400	Weak transcription	Brain Angular Gyrus	brain
16	chr8:42788800-42814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:42788800-42815000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:42789000-42815600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:42794000-42815000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:42795000-42825000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:42795800-42814200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:42795800-42815400	Weak transcription	Fetal Brain Male	brain
23	chr8:42795800-42829800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:42796000-42814200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:42796000-42822200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:42796800-42846000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:42797000-42814200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:42799600-42814400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:42800400-42823600	Weak transcription	Hela-S3	cervix
30	chr8:42801600-42814200	Weak transcription	Colonic Mucosa	Colon
31	chr8:42802200-42826200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:42803000-42815400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:42803800-42824200	Strong transcription	HSMM	muscle
34	chr8:42804800-42816000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:42805400-42829200	Weak transcription	Small Intestine	intestine
36	chr8:42805600-42813800	Weak transcription	Fetal Kidney	kidney
37	chr8:42806600-42817200	Strong transcription	Osteobl	bone
38	chr8:42806800-42814200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:42806800-42814200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:42807200-42814400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:42807400-42814200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr8:42807400-42814600	Weak transcription	Fetal Intestine Small	intestine
43	chr8:42807600-42814200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr8:42807600-42814200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:42807600-42814200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:42807600-42814200	Weak transcription	HepG2	liver
47	chr8:42807600-42814400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:42807600-42814400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:42807600-42814400	Weak transcription	Brain Substantia Nigra	brain
50	chr8:42807800-42814200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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