Variant report

Variant	rs376131909
Chromosome Location	chr5:14745958-14745959
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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2756652	chr5:14745268-14750481	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14725400-14758600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:14727200-14748000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:14727200-14757000	Weak transcription	NHLF	lung
4	chr5:14729200-14791000	Weak transcription	Small Intestine	intestine
5	chr5:14729600-14752600	Strong transcription	Fetal Intestine Large	intestine
6	chr5:14729800-14749400	Strong transcription	Fetal Intestine Small	intestine
7	chr5:14730000-14758400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr5:14733400-14750600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:14733400-14753000	Weak transcription	Fetal Brain Male	brain
10	chr5:14736400-14746200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:14736600-14752200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr5:14736600-14760000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:14736800-14752800	Weak transcription	A549	lung
14	chr5:14736800-14753800	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr5:14736800-14757400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr5:14737000-14754200	Strong transcription	Liver	Liver
17	chr5:14737800-14759200	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:14737800-14759400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:14738200-14746200	Weak transcription	Aorta	Aorta
20	chr5:14738200-14749400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:14739600-14749200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:14739600-14753800	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:14739800-14751200	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:14740200-14746200	Strong transcription	Esophagus	oesophagus
25	chr5:14740200-14746800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:14740800-14746000	Enhancers	Fetal Thymus	thymus
27	chr5:14740800-14748800	Weak transcription	NHEK	skin
28	chr5:14740800-14751400	Strong transcription	Adipose Nuclei	Adipose
29	chr5:14740800-14755200	Weak transcription	NHDF-Ad	bronchial
30	chr5:14741000-14749400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:14741000-14752000	Weak transcription	Fetal Lung	lung
32	chr5:14741600-14748200	Weak transcription	Stomach Mucosa	stomach
33	chr5:14741600-14753800	Weak transcription	Colon Smooth Muscle	Colon
34	chr5:14741600-14767800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:14741800-14750400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:14742000-14748400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:14742000-14749800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:14742000-14751600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
39	chr5:14742400-14748000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:14742400-14748800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:14742400-14752600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:14742800-14756600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr5:14742800-14758400	Strong transcription	Primary T cells from cord blood	blood
44	chr5:14743000-14747600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:14743000-14756800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr5:14744200-14746200	Enhancers	GM12878-XiMat	blood
47	chr5:14744200-14757400	Strong transcription	Dnd41	blood
48	chr5:14744400-14746000	Strong transcription	Lung	lung
49	chr5:14744400-14746000	Enhancers	HepG2	liver
50	chr5:14744400-14746200	Genic enhancers	Left Ventricle	heart

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