Variant report

Variant	rs2275017
Chromosome Location	chr14:64375888-64375889
allele	C/T
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:2)

rs_ID	r²[population]
rs13379053	1.00[CEU][hapmap]
rs17751301	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv564904	chr14:64346190-64416898	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1793389	chr14:64346190-64457224	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64337800-64403800	Weak transcription	Thymus	Thymus
2	chr14:64358200-64377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:64358800-64377600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:64360600-64382200	Weak transcription	Psoas Muscle	Psoas
5	chr14:64360800-64377800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:64364400-64385200	Weak transcription	Pancreas	Pancrea
7	chr14:64364600-64387800	Weak transcription	HMEC	breast
8	chr14:64365000-64430200	Weak transcription	Fetal Brain Male	brain
9	chr14:64365200-64386200	Weak transcription	Gastric	stomach
10	chr14:64365400-64376600	Weak transcription	Placenta	Placenta
11	chr14:64365400-64379800	Weak transcription	Fetal Thymus	thymus
12	chr14:64365400-64393600	Weak transcription	Right Ventricle	heart
13	chr14:64367400-64378000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:64367800-64377400	Weak transcription	Primary B cells from cord blood	blood
15	chr14:64369600-64377600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:64369800-64376200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:64369800-64376400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:64369800-64386200	Weak transcription	Esophagus	oesophagus
19	chr14:64372200-64378000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:64373000-64376000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr14:64373200-64376400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:64373600-64376000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr14:64374000-64376000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:64374200-64376000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr14:64374400-64376000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:64374400-64376000	Enhancers	Small Intestine	intestine
27	chr14:64374600-64376400	Enhancers	Liver	Liver
28	chr14:64374600-64377400	Weak transcription	Brain Germinal Matrix	brain
29	chr14:64374600-64399600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:64374800-64376000	Enhancers	Fetal Heart	heart
31	chr14:64375000-64376000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr14:64375000-64377400	Weak transcription	Fetal Intestine Small	intestine
33	chr14:64375200-64376000	Active TSS	Stomach Smooth Muscle	stomach
34	chr14:64375200-64376200	Weak transcription	Lung	lung
35	chr14:64375200-64385000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:64375200-64395000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:64375200-64395200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr14:64375400-64376000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:64375400-64376000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr14:64375400-64376000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:64375400-64376000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:64375400-64376000	Active TSS	Aorta	Aorta
43	chr14:64375400-64376000	Active TSS	Brain Substantia Nigra	brain
44	chr14:64375400-64376000	Flanking Active TSS	Fetal Lung	lung
45	chr14:64375400-64376000	Enhancers	Left Ventricle	heart
46	chr14:64375400-64376000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr14:64375400-64376000	Flanking Active TSS	Osteobl	bone
48	chr14:64375400-64377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:64375400-64380000	Strong transcription	Dnd41	blood
50	chr14:64375600-64376000	Enhancers	Primary T cells from cord blood	blood

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