Variant report

Variant	rs1152467
Chromosome Location	chr14:56765746-56765747
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:7)

rs_ID	r²[population]
rs11158091	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11158092	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1152469	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1152470	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1152472	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1382973	0.89[GIH][hapmap]
rs242578	0.80[JPT][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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv901978	chr14:56740554-56799997	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv901979	chr14:56740554-56802610	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56735800-56765800	Weak transcription	NHLF	lung
2	chr14:56738800-56766000	Weak transcription	Brain Angular Gyrus	brain
3	chr14:56738800-56775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:56741600-56766000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:56747000-56768600	Strong transcription	Dnd41	blood
6	chr14:56750400-56777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:56753200-56773200	Weak transcription	Fetal Brain Male	brain
8	chr14:56753800-56765800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:56754600-56771200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:56755000-56767000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:56755200-56769800	Strong transcription	Primary hematopoietic stem cells	blood
12	chr14:56755400-56770000	Weak transcription	Brain Substantia Nigra	brain
13	chr14:56757400-56773200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:56757600-56767000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:56758400-56766000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:56758600-56770800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:56758800-56765800	Weak transcription	Aorta	Aorta
18	chr14:56758800-56766600	Weak transcription	Fetal Kidney	kidney
19	chr14:56758800-56772400	Weak transcription	Brain Germinal Matrix	brain
20	chr14:56759000-56777000	Weak transcription	Left Ventricle	heart
21	chr14:56760000-56766000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr14:56760200-56766400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:56760800-56770800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:56762800-56766000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:56763200-56766800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:56763800-56769600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:56764000-56765800	Weak transcription	Ovary	ovary
28	chr14:56764000-56766400	Weak transcription	Fetal Stomach	stomach
29	chr14:56764000-56769600	Weak transcription	Gastric	stomach
30	chr14:56764000-56770000	Weak transcription	Primary T cells from cord blood	blood
31	chr14:56764200-56765800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:56764200-56765800	Weak transcription	Adipose Nuclei	Adipose
33	chr14:56764200-56766000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:56764400-56766000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:56764400-56766000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:56764400-56766000	Weak transcription	Spleen	Spleen
37	chr14:56764400-56766400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:56764400-56768200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:56764400-56768800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:56764400-56768800	Weak transcription	Fetal Intestine Small	intestine
41	chr14:56764400-56769000	Weak transcription	Primary B cells from cord blood	blood
42	chr14:56764400-56770400	Weak transcription	Fetal Intestine Large	intestine
43	chr14:56764400-56774400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:56764400-56785600	Weak transcription	Lung	lung
45	chr14:56764400-56798200	Weak transcription	Pancreas	Pancrea
46	chr14:56764400-56808800	Weak transcription	Thymus	Thymus
47	chr14:56764600-56769000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:56764800-56765800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr14:56764800-56771200	Weak transcription	Fetal Brain Female	brain
50	chr14:56765000-56771200	Weak transcription	Fetal Thymus	thymus

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