Variant report

Variant	rs12437095
Chromosome Location	chr14:38678356-38678357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11156991	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12589603	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12887290	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6571847	0.81[ASN][1000 genomes]
rs7152719	0.83[EUR][1000 genomes];0.83[ASN][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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38676600-38678800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
2	chr14:38676600-38679200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:38676600-38679400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
4	chr14:38676600-38680800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:38676600-38681600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:38676800-38678800	Active TSS	Hela-S3	cervix
7	chr14:38676800-38681000	Flanking Active TSS	HUVEC	blood vessel
8	chr14:38677000-38678400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
9	chr14:38677000-38678800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:38677000-38678800	Active TSS	Brain Angular Gyrus	brain
11	chr14:38677000-38678800	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr14:38677000-38678800	Active TSS	NHDF-Ad	bronchial
13	chr14:38677000-38679000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr14:38677000-38679000	Active TSS	Gastric	stomach
15	chr14:38677000-38679000	Active TSS	Stomach Mucosa	stomach
16	chr14:38677000-38679200	Active TSS	Right Atrium	heart
17	chr14:38677000-38679400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
18	chr14:38677000-38680200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
19	chr14:38677000-38680200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
20	chr14:38677000-38680400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr14:38677000-38680800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
22	chr14:38677200-38678400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr14:38677200-38678400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
24	chr14:38677200-38678400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:38677200-38678400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
26	chr14:38677200-38678400	Bivalent Enhancer	Placenta	Placenta
27	chr14:38677200-38678400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
28	chr14:38677200-38678800	Bivalent/Poised TSS	Fetal Kidney	kidney
29	chr14:38677200-38679000	Active TSS	Aorta	Aorta
30	chr14:38677200-38679000	Bivalent/Poised TSS	Left Ventricle	heart
31	chr14:38677200-38679200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
32	chr14:38677200-38679200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:38677200-38680800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:38677200-38680800	Active TSS	Osteobl	bone
35	chr14:38677400-38678400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:38677400-38678600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:38677400-38678600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:38677400-38678600	Enhancers	Spleen	Spleen
39	chr14:38677400-38678800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:38677400-38679200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
41	chr14:38677600-38678800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:38677600-38678800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:38677600-38678800	Bivalent/Poised TSS	NHEK	skin
44	chr14:38677600-38679000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
45	chr14:38677600-38679600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:38677600-38679600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
47	chr14:38677600-38681200	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr14:38677800-38678400	Flanking Active TSS	Colonic Mucosa	Colon
49	chr14:38677800-38678600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
50	chr14:38677800-38678600	Active TSS	Brain Substantia Nigra	brain

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