Variant report

Variant	rs562181954
Chromosome Location	chr5:80436599-80436600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv830360	chr5:80283278-80446040	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1025799	chr5:80436584-80485252	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80410600-80446600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:80414200-80438000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:80418400-80443800	Weak transcription	Brain Angular Gyrus	brain
4	chr5:80419400-80438200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr5:80421800-80443600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:80422000-80443400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:80423000-80451400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:80423400-80443800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:80424400-80443800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:80424400-80445000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:80426400-80443800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:80429200-80443800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr5:80431600-80438800	Strong transcription	Primary T cells from cord blood	blood
14	chr5:80432800-80443800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:80434000-80436600	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:80434400-80436800	Strong transcription	HepG2	liver
17	chr5:80434600-80442200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:80435800-80436800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:80435800-80437400	Enhancers	Brain Substantia Nigra	brain
20	chr5:80435800-80438800	Enhancers	Fetal Muscle Leg	muscle
21	chr5:80436000-80438000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:80436200-80436600	Enhancers	Fetal Brain Female	brain
23	chr5:80436200-80436600	Enhancers	Dnd41	blood
24	chr5:80436200-80436800	Enhancers	Aorta	Aorta
25	chr5:80436200-80436800	Enhancers	Fetal Muscle Trunk	muscle
26	chr5:80436200-80436800	Enhancers	Lung	lung
27	chr5:80436200-80436800	Enhancers	Stomach Smooth Muscle	stomach
28	chr5:80436200-80437000	Enhancers	Fetal Brain Male	brain
29	chr5:80436200-80437200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:80436200-80437200	Enhancers	Fetal Kidney	kidney
31	chr5:80436200-80437200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr5:80436200-80437400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:80436200-80437400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:80436200-80437400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:80436200-80437400	Enhancers	Colon Smooth Muscle	Colon
36	chr5:80436200-80437400	Enhancers	Ovary	ovary
37	chr5:80436200-80437400	Enhancers	NHLF	lung
38	chr5:80436200-80437800	Enhancers	Brain Germinal Matrix	brain
39	chr5:80436200-80438200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr5:80436200-80438600	Enhancers	Brain Hippocampus Middle	brain
41	chr5:80436200-80438800	Enhancers	Fetal Stomach	stomach
42	chr5:80436200-80442800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:80436400-80436800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:80436400-80436800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr5:80436400-80436800	Flanking Active TSS	Fetal Lung	lung
46	chr5:80436400-80436800	Enhancers	Left Ventricle	heart
47	chr5:80436400-80436800	Enhancers	Psoas Muscle	Psoas
48	chr5:80436400-80436800	Enhancers	Right Atrium	heart
49	chr5:80436400-80437000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:80436400-80437000	Enhancers	NHDF-Ad	bronchial

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