Variant report

Variant	rs854403
Chromosome Location	chr14:25346636-25346637
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10483289	0.87[CHD][hapmap]
rs11158952	0.81[JPT][hapmap]
rs1241596	0.91[CHD][hapmap]
rs1241597	0.91[CHD][hapmap]
rs1241599	0.90[CHD][hapmap]
rs1241600	0.91[CHD][hapmap]
rs1241604	0.88[CHD][hapmap]
rs1241611	0.90[JPT][hapmap]
rs1241612	0.88[JPT][hapmap]
rs1241614	0.87[JPT][hapmap]
rs1241640	0.81[JPT][hapmap]
rs1241641	0.81[JPT][hapmap]
rs1241642	0.81[JPT][hapmap]
rs12884685	0.90[CHD][hapmap];0.80[GIH][hapmap]
rs12889256	0.90[CHD][hapmap]
rs12894268	0.87[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901505	chr14:25237268-25360584	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv901506	chr14:25295551-25377188	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1041445	chr14:25326692-25388290	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1810592	chr14:25346636-25354756	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs854403	C14orf119	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25331000-25349800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:25331200-25349800	Weak transcription	HSMM	muscle
3	chr14:25342400-25346800	Enhancers	Adipose Nuclei	Adipose
4	chr14:25342800-25351000	Enhancers	Brain Substantia Nigra	brain
5	chr14:25343000-25351200	Enhancers	Brain Cingulate Gyrus	brain
6	chr14:25343200-25349000	Weak transcription	Right Atrium	heart
7	chr14:25343200-25349600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:25343800-25347600	Enhancers	Brain Angular Gyrus	brain
9	chr14:25344000-25351000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:25344200-25346800	Enhancers	Fetal Lung	lung
11	chr14:25344400-25348800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:25344400-25349000	Weak transcription	Left Ventricle	heart
13	chr14:25344400-25349000	Weak transcription	Lung	lung
14	chr14:25344600-25354200	Weak transcription	Fetal Intestine Large	intestine
15	chr14:25344800-25349400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:25344800-25349600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:25345200-25348800	Weak transcription	Fetal Heart	heart
18	chr14:25345200-25349200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:25345400-25347000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:25345400-25349400	Weak transcription	NHDF-Ad	bronchial
21	chr14:25345600-25349000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:25345800-25346800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:25345800-25349000	Weak transcription	Pancreas	Pancrea
24	chr14:25345800-25349000	Weak transcription	Right Ventricle	heart
25	chr14:25345800-25349600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:25346000-25347000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:25346000-25349000	Weak transcription	Fetal Muscle Leg	muscle
28	chr14:25346000-25349000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr14:25346000-25358000	Weak transcription	Fetal Intestine Small	intestine
30	chr14:25346200-25346800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr14:25346200-25347600	Enhancers	Brain Hippocampus Middle	brain
32	chr14:25346200-25348800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:25346200-25349200	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:25346200-25350400	Weak transcription	Stomach Mucosa	stomach
35	chr14:25346200-25351200	Enhancers	Brain Anterior Caudate	brain
36	chr14:25346400-25346800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:25346400-25347000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:25346400-25347000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr14:25346400-25348800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:25346400-25348800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:25346400-25350400	Weak transcription	Fetal Stomach	stomach
42	chr14:25346600-25346800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr14:25346600-25347800	Weak transcription	HepG2	liver

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