Variant report

Variant	rs2228497
Chromosome Location	chr14:38679473-38679474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1135474	0.88[CEU][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12878376	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12880345	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12883019	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12887084	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12887630	0.80[MEX][hapmap]
rs12889916	0.81[ASW][hapmap];0.96[CEU][hapmap];0.98[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12894572	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17474043	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66886850	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38676600-38680800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:38676600-38681600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr14:38676800-38681000	Flanking Active TSS	HUVEC	blood vessel
4	chr14:38677000-38680200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
5	chr14:38677000-38680200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
6	chr14:38677000-38680400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr14:38677000-38680800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr14:38677200-38680800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:38677200-38680800	Active TSS	Osteobl	bone
10	chr14:38677600-38679600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:38677600-38679600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
12	chr14:38677600-38681200	Bivalent/Poised TSS	Psoas Muscle	Psoas
13	chr14:38677800-38679600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
14	chr14:38678000-38680600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr14:38678200-38680800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr14:38678200-38681200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr14:38678400-38679600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr14:38678400-38679600	Flanking Active TSS	Lung	lung
19	chr14:38678400-38679600	Flanking Active TSS	Pancreas	Pancrea
20	chr14:38678400-38680000	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr14:38678400-38680200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
22	chr14:38678600-38679600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
23	chr14:38678600-38679600	Flanking Active TSS	Colonic Mucosa	Colon
24	chr14:38678600-38679800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
25	chr14:38678600-38680000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:38678600-38680000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
27	chr14:38678600-38680000	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:38678600-38680000	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
29	chr14:38678600-38680000	Bivalent Enhancer	Placenta	Placenta
30	chr14:38678600-38680400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
31	chr14:38678600-38680600	Flanking Active TSS	Liver	Liver
32	chr14:38678800-38679600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr14:38678800-38679600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
34	chr14:38678800-38679600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr14:38678800-38679600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
36	chr14:38678800-38679600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr14:38678800-38679600	Flanking Active TSS	NHDF-Ad	bronchial
38	chr14:38678800-38679600	Flanking Bivalent TSS/Enh	NHEK	skin
39	chr14:38678800-38680200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
40	chr14:38678800-38680200	Flanking Active TSS	Hela-S3	cervix
41	chr14:38678800-38680400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
42	chr14:38678800-38680400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
43	chr14:38678800-38680600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
44	chr14:38678800-38680800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
45	chr14:38678800-38681000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr14:38679000-38679600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
47	chr14:38679000-38679600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:38679000-38679600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
49	chr14:38679000-38679600	Bivalent Enhancer	Ovary	ovary
50	chr14:38679000-38679800	Weak transcription	Aorta	Aorta

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