Variant report

Variant	rs114502147
Chromosome Location	chr5:74347790-74347791
allele	A/G
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	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv1835096	chr5:74336883-74356857	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv598654	chr5:74345369-74351228	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv3421723	chr5:74346596-74351294	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74330600-74348000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:74337600-74348200	Weak transcription	Left Ventricle	heart
3	chr5:74338600-74348000	Weak transcription	Psoas Muscle	Psoas
4	chr5:74342200-74347800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:74344400-74348000	Weak transcription	Right Atrium	heart
6	chr5:74344800-74347800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr5:74344800-74347800	Weak transcription	Osteobl	bone
8	chr5:74344800-74348000	Weak transcription	HSMMtube	muscle
9	chr5:74344800-74348400	Enhancers	Spleen	Spleen
10	chr5:74345400-74348000	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr5:74345600-74347800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr5:74345600-74347800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr5:74345600-74347800	Enhancers	GM12878-XiMat	blood
14	chr5:74345600-74348400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr5:74345800-74348400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr5:74346000-74348000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:74346000-74350200	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr5:74346200-74347800	Weak transcription	Adipose Nuclei	Adipose
19	chr5:74346200-74347800	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr5:74346400-74347800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr5:74346400-74350400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr5:74346800-74347800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:74346800-74348000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:74346800-74348000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
25	chr5:74346800-74348000	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr5:74346800-74348200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr5:74347000-74347800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr5:74347000-74347800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:74347000-74347800	Flanking Active TSS	NHLF	lung
30	chr5:74347000-74348000	Enhancers	Colonic Mucosa	Colon
31	chr5:74347000-74348000	Enhancers	Hela-S3	cervix
32	chr5:74347000-74348200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr5:74347000-74348400	Bivalent/Poised TSS	Fetal Kidney	kidney
34	chr5:74347000-74348400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr5:74347000-74350000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:74347000-74350000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:74347000-74350200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:74347000-74350800	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr5:74347200-74347800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:74347200-74348000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr5:74347200-74348800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:74347200-74348800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:74347400-74347800	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr5:74347400-74347800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:74347400-74347800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:74347400-74347800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:74347400-74347800	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr5:74347400-74348000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:74347400-74348000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:74347400-74348000	Enhancers	Brain Hippocampus Middle	brain

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