Variant report

Variant	rs11448247
Chromosome Location	chr5:80436809-80436810
allele	-/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:55 , 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	chr5:80434600-80442200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:80435800-80437400	Enhancers	Brain Substantia Nigra	brain
17	chr5:80435800-80438800	Enhancers	Fetal Muscle Leg	muscle
18	chr5:80436000-80438000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:80436200-80437000	Enhancers	Fetal Brain Male	brain
20	chr5:80436200-80437200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:80436200-80437200	Enhancers	Fetal Kidney	kidney
22	chr5:80436200-80437200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:80436200-80437400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:80436200-80437400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:80436200-80437400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:80436200-80437400	Enhancers	Colon Smooth Muscle	Colon
27	chr5:80436200-80437400	Enhancers	Ovary	ovary
28	chr5:80436200-80437400	Enhancers	NHLF	lung
29	chr5:80436200-80437800	Enhancers	Brain Germinal Matrix	brain
30	chr5:80436200-80438200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:80436200-80438600	Enhancers	Brain Hippocampus Middle	brain
32	chr5:80436200-80438800	Enhancers	Fetal Stomach	stomach
33	chr5:80436200-80442800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:80436400-80437000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:80436400-80437000	Enhancers	NHDF-Ad	bronchial
36	chr5:80436400-80437200	Enhancers	Brain Anterior Caudate	brain
37	chr5:80436400-80437200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr5:80436400-80437200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr5:80436400-80437200	Enhancers	NH-A	brain
40	chr5:80436400-80437400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:80436400-80437400	Enhancers	Rectal Smooth Muscle	rectum
42	chr5:80436400-80437400	Enhancers	Right Ventricle	heart
43	chr5:80436600-80437200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:80436600-80437200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr5:80436600-80437200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr5:80436600-80437200	Enhancers	Osteobl	bone
47	chr5:80436600-80438000	Weak transcription	Fetal Brain Female	brain
48	chr5:80436600-80443400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:80436800-80437600	Enhancers	Adipose Nuclei	Adipose
50	chr5:80436800-80438400	Enhancers	Fetal Heart	heart

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