Variant report

Variant	rs8018553
Chromosome Location	chr14:56766094-56766095
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10144612	0.94[ASW][hapmap]
rs1427556	0.89[ASW][hapmap]
rs56091865	0.86[ASN][1000 genomes]
rs56401225	0.91[ASN][1000 genomes]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8018553	C14orf166	cis	parietal	SCAN
rs8018553	EXOC5	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56738800-56775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:56747000-56768600	Strong transcription	Dnd41	blood
3	chr14:56750400-56777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:56753200-56773200	Weak transcription	Fetal Brain Male	brain
5	chr14:56754600-56771200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:56755000-56767000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:56755200-56769800	Strong transcription	Primary hematopoietic stem cells	blood
8	chr14:56755400-56770000	Weak transcription	Brain Substantia Nigra	brain
9	chr14:56757400-56773200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:56757600-56767000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:56758600-56770800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:56758800-56766600	Weak transcription	Fetal Kidney	kidney
13	chr14:56758800-56772400	Weak transcription	Brain Germinal Matrix	brain
14	chr14:56759000-56777000	Weak transcription	Left Ventricle	heart
15	chr14:56760200-56766400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:56760800-56770800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:56763200-56766800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:56763800-56769600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:56764000-56766400	Weak transcription	Fetal Stomach	stomach
20	chr14:56764000-56769600	Weak transcription	Gastric	stomach
21	chr14:56764000-56770000	Weak transcription	Primary T cells from cord blood	blood
22	chr14:56764400-56766400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:56764400-56768200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:56764400-56768800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:56764400-56768800	Weak transcription	Fetal Intestine Small	intestine
26	chr14:56764400-56769000	Weak transcription	Primary B cells from cord blood	blood
27	chr14:56764400-56770400	Weak transcription	Fetal Intestine Large	intestine
28	chr14:56764400-56774400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:56764400-56785600	Weak transcription	Lung	lung
30	chr14:56764400-56798200	Weak transcription	Pancreas	Pancrea
31	chr14:56764400-56808800	Weak transcription	Thymus	Thymus
32	chr14:56764600-56769000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:56764800-56771200	Weak transcription	Fetal Brain Female	brain
34	chr14:56765000-56771200	Weak transcription	Fetal Thymus	thymus
35	chr14:56765000-56772800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:56765200-56767400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr14:56765200-56774800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:56765200-56776600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:56765400-56767000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr14:56765800-56766600	Enhancers	Ovary	ovary
41	chr14:56765800-56767800	Enhancers	NHLF	lung
42	chr14:56766000-56766200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr14:56766000-56766400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:56766000-56766600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:56766000-56767000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:56766000-56771000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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