Variant report

Variant	rs542108844
Chromosome Location	chr5:81075398-81075399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:81073239..81075996-chr5:81079626..81082317,4	K562	blood:

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	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv598753	chr5:81031741-81491087	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv471018	chr5:81036805-81480371	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv1033091	chr5:81039194-81159522	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv869102	chr5:81052386-81494502	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv980937	chr5:81075334-81097245	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:81065200-81083800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:81069000-81075800	Weak transcription	Left Ventricle	heart
3	chr5:81071000-81075400	Weak transcription	Spleen	Spleen
4	chr5:81071200-81075400	Weak transcription	Lung	lung
5	chr5:81072400-81083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:81074000-81075600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:81074200-81075400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:81074200-81075400	Flanking Active TSS	Fetal Lung	lung
9	chr5:81074200-81075400	Active TSS	Right Atrium	heart
10	chr5:81074200-81075600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:81074200-81075600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:81074200-81075600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:81074200-81075600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr5:81074200-81075600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr5:81074200-81075600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr5:81074200-81075600	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr5:81074200-81075800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:81074200-81075800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:81074200-81075800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:81074200-81075800	Enhancers	Small Intestine	intestine
21	chr5:81074200-81075800	Flanking Active TSS	K562	blood
22	chr5:81074200-81076000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:81074400-81075400	Active TSS	Brain Angular Gyrus	brain
24	chr5:81074400-81075400	Enhancers	Fetal Heart	heart
25	chr5:81074400-81075400	Flanking Active TSS	NHLF	lung
26	chr5:81074400-81075400	Flanking Active TSS	Osteobl	bone
27	chr5:81074400-81075600	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr5:81074400-81075600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr5:81074400-81075600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:81074400-81075600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr5:81074400-81075600	Enhancers	Fetal Brain Male	brain
32	chr5:81074400-81075600	Enhancers	Fetal Brain Female	brain
33	chr5:81074400-81075600	Enhancers	Placenta	Placenta
34	chr5:81074400-81075600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr5:81074400-81075600	Flanking Active TSS	GM12878-XiMat	blood
36	chr5:81074400-81075600	Flanking Active TSS	NHDF-Ad	bronchial
37	chr5:81074400-81075800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:81074400-81075800	Enhancers	Fetal Intestine Large	intestine
39	chr5:81074400-81075800	Flanking Active TSS	Dnd41	blood
40	chr5:81074400-81076000	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr5:81074400-81076000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr5:81074600-81075400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:81074600-81075400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr5:81074600-81075400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:81074600-81075400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:81074600-81075400	Flanking Active TSS	Fetal Kidney	kidney
47	chr5:81074600-81075400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr5:81074600-81075400	Flanking Active TSS	Fetal Thymus	thymus
49	chr5:81074600-81075400	Active TSS	HepG2	liver
50	chr5:81074600-81075400	Flanking Active TSS	HUVEC	blood vessel

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