Variant report

Variant	rs76250716
Chromosome Location	chr5:115641232-115641233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882747	chr5:115566636-115662510	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv882748	chr5:115584159-115669950	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv869754	chr5:115634234-115696094	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1018001	chr5:115640603-115660285	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115613400-115641600	Weak transcription	HSMM	muscle
2	chr5:115625600-115643000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:115626600-115641600	Weak transcription	Fetal Brain Male	brain
4	chr5:115626800-115642200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:115628000-115643800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:115628600-115643400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:115629000-115643800	Weak transcription	HUVEC	blood vessel
8	chr5:115631800-115641800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:115632000-115643000	Weak transcription	NH-A	brain
10	chr5:115632600-115643400	Weak transcription	Stomach Mucosa	stomach
11	chr5:115632800-115642600	Weak transcription	NHDF-Ad	bronchial
12	chr5:115634200-115641400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr5:115634200-115641800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:115634200-115641800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr5:115634200-115642200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:115634200-115643600	Weak transcription	HepG2	liver
17	chr5:115634200-115664400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:115634400-115641800	Strong transcription	Brain Substantia Nigra	brain
19	chr5:115634400-115645600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:115634600-115641600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:115635400-115642400	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr5:115635400-115642600	Strong transcription	Left Ventricle	heart
23	chr5:115635400-115643600	Strong transcription	Fetal Intestine Large	intestine
24	chr5:115635600-115641600	Weak transcription	Brain Germinal Matrix	brain
25	chr5:115635800-115641400	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:115636200-115643600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:115637600-115643400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:115637600-115643800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:115637800-115642400	Enhancers	Liver	Liver
30	chr5:115637800-115642800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:115638200-115642600	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:115638200-115642800	Strong transcription	Pancreas	Pancrea
33	chr5:115638400-115643000	Strong transcription	Right Ventricle	heart
34	chr5:115638400-115643400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:115638400-115644000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:115638600-115641400	Weak transcription	Fetal Thymus	thymus
37	chr5:115638800-115643400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:115639000-115644400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:115639200-115642000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:115639200-115642000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr5:115639200-115643200	Strong transcription	Placenta	Placenta
42	chr5:115639400-115641600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:115639400-115642800	Strong transcription	A549	lung
44	chr5:115639400-115643000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr5:115639400-115645200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr5:115639600-115641400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr5:115639600-115642200	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr5:115639600-115642800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:115639600-115643000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr5:115639600-115643600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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