Variant report

Variant	rs4394988
Chromosome Location	chr14:38677912-38677913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4073844	0.82[EUR][1000 genomes]

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	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	nsv533235	chr14:38558180-39117391	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832773	chr14:38612778-38785003	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38676600-38678000	Flanking Active TSS	Liver	Liver
2	chr14:38676600-38678200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:38676600-38678200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr14:38676600-38678800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
5	chr14:38676600-38679200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:38676600-38679400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr14:38676600-38680800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:38676600-38681600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr14:38676800-38678200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
10	chr14:38676800-38678200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr14:38676800-38678800	Active TSS	Hela-S3	cervix
12	chr14:38676800-38681000	Flanking Active TSS	HUVEC	blood vessel
13	chr14:38677000-38678000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
14	chr14:38677000-38678400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr14:38677000-38678800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:38677000-38678800	Active TSS	Brain Angular Gyrus	brain
17	chr14:38677000-38678800	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr14:38677000-38678800	Active TSS	NHDF-Ad	bronchial
19	chr14:38677000-38679000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr14:38677000-38679000	Active TSS	Gastric	stomach
21	chr14:38677000-38679000	Active TSS	Stomach Mucosa	stomach
22	chr14:38677000-38679200	Active TSS	Right Atrium	heart
23	chr14:38677000-38679400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
24	chr14:38677000-38680200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
25	chr14:38677000-38680200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr14:38677000-38680400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr14:38677000-38680800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
28	chr14:38677200-38678000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:38677200-38678000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
30	chr14:38677200-38678000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr14:38677200-38678000	Bivalent Enhancer	Fetal Thymus	thymus
32	chr14:38677200-38678200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr14:38677200-38678200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
34	chr14:38677200-38678200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
35	chr14:38677200-38678200	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr14:38677200-38678200	Flanking Bivalent TSS/Enh	HSMM	muscle
37	chr14:38677200-38678400	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr14:38677200-38678400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
39	chr14:38677200-38678400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:38677200-38678400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
41	chr14:38677200-38678400	Bivalent Enhancer	Placenta	Placenta
42	chr14:38677200-38678400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
43	chr14:38677200-38678800	Bivalent/Poised TSS	Fetal Kidney	kidney
44	chr14:38677200-38679000	Active TSS	Aorta	Aorta
45	chr14:38677200-38679000	Bivalent/Poised TSS	Left Ventricle	heart
46	chr14:38677200-38679200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
47	chr14:38677200-38679200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:38677200-38680800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:38677200-38680800	Active TSS	Osteobl	bone
50	chr14:38677400-38678000	Bivalent/Poised TSS	Fetal Intestine Small	intestine

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