Variant report

Variant	rs113375903
Chromosome Location	chr8:54625568-54625569
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv890920	chr8:54559770-54626539	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv981939	chr8:54625558-54627152	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54605800-54626800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:54613600-54629800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:54613600-54634800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:54620800-54636200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:54620800-54636200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:54621000-54629000	Weak transcription	Gastric	stomach
7	chr8:54621400-54643600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:54622200-54632800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:54622400-54626400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr8:54624000-54626600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:54624200-54625600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:54624200-54635800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:54624200-54640600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:54624200-54643600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:54624400-54625600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:54624400-54625600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:54624400-54625600	Active TSS	Colon Smooth Muscle	Colon
18	chr8:54624400-54625600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr8:54624400-54625600	Active TSS	A549	lung
20	chr8:54624600-54625600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr8:54624600-54625600	Active TSS	Ovary	ovary
22	chr8:54624600-54625600	Active TSS	Stomach Smooth Muscle	stomach
23	chr8:54624600-54625600	Active TSS	NHEK	skin
24	chr8:54624600-54639200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:54624800-54625600	Active TSS	Rectal Smooth Muscle	rectum
26	chr8:54624800-54626200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr8:54625000-54625600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:54625000-54626400	Weak transcription	Primary B cells from cord blood	blood
29	chr8:54625000-54628800	Weak transcription	Stomach Mucosa	stomach
30	chr8:54625000-54640000	Weak transcription	Fetal Thymus	thymus
31	chr8:54625000-54642000	Weak transcription	Brain Substantia Nigra	brain
32	chr8:54625200-54626000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:54625200-54626800	Weak transcription	Dnd41	blood
34	chr8:54625200-54627800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:54625200-54634600	Weak transcription	Pancreas	Pancrea
36	chr8:54625200-54635800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:54625200-54639800	Weak transcription	Thymus	Thymus
38	chr8:54625200-54641200	Weak transcription	Brain Angular Gyrus	brain
39	chr8:54625200-54649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr8:54625200-54649600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:54625400-54625600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:54625400-54625600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:54625400-54625600	Enhancers	Brain Hippocampus Middle	brain
44	chr8:54625400-54626000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:54625400-54626000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr8:54625400-54626600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:54625400-54626800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:54625400-54626800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:54625400-54626800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr8:54625400-54626800	Weak transcription	Liver	Liver

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