Variant report

Variant	rs111507970
Chromosome Location	chr8:54682193-54682194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv3347149	chr8:54682108-54682472	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54650200-54707400	Weak transcription	HUVEC	blood vessel
2	chr8:54655400-54703600	Weak transcription	Brain Angular Gyrus	brain
3	chr8:54655800-54726000	Weak transcription	Colonic Mucosa	Colon
4	chr8:54667600-54685800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:54667800-54687400	Weak transcription	Spleen	Spleen
6	chr8:54667800-54726200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:54668000-54687400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:54668000-54703000	Weak transcription	Brain Substantia Nigra	brain
9	chr8:54669400-54687400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:54671200-54687000	Weak transcription	Fetal Brain Male	brain
11	chr8:54673000-54687400	Weak transcription	Small Intestine	intestine
12	chr8:54673200-54687400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:54673400-54683600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:54673400-54684000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:54673400-54687400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:54673400-54687600	Weak transcription	Esophagus	oesophagus
17	chr8:54673400-54687600	Weak transcription	Lung	lung
18	chr8:54673400-54698200	Weak transcription	Pancreas	Pancrea
19	chr8:54673400-54698400	Weak transcription	Gastric	stomach
20	chr8:54673400-54703000	Weak transcription	Left Ventricle	heart
21	chr8:54673400-54704000	Weak transcription	Right Ventricle	heart
22	chr8:54673600-54691200	Weak transcription	HepG2	liver
23	chr8:54675000-54682800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:54675200-54689000	Weak transcription	Fetal Heart	heart
25	chr8:54675400-54683600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:54676400-54683600	Weak transcription	Psoas Muscle	Psoas
27	chr8:54676600-54684000	Weak transcription	Ovary	ovary
28	chr8:54676600-54686800	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:54676600-54702800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:54676600-54703200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:54676600-54703800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:54676800-54683200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:54677200-54682200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:54677200-54682600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:54677200-54683200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:54677200-54686000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:54677400-54682200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:54677600-54687400	Weak transcription	Fetal Stomach	stomach
39	chr8:54677800-54683600	Weak transcription	Thymus	Thymus
40	chr8:54679200-54682200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr8:54679200-54684200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:54679400-54685400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr8:54679600-54682600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:54679600-54686000	Weak transcription	Fetal Intestine Small	intestine
45	chr8:54679800-54682200	Strong transcription	Fetal Lung	lung
46	chr8:54679800-54682400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr8:54679800-54683800	ZNF genes & repeats	GM12878-XiMat	blood
48	chr8:54679800-54685200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:54679800-54686000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr8:54680000-54682600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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