Variant report

Variant	rs17185439
Chromosome Location	chr14:25428420-25428421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11550670	1.00[ASW][hapmap]
rs12894282	1.00[ASW][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	nsv901508	chr14:25365505-25451903	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1041051	chr14:25388230-25480511	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1047792	chr14:25388933-25503799	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17185439	C14orf119	cis	cerebellum	SCAN
rs17185439	REM2	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25422600-25434000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:25423600-25429200	Weak transcription	Placenta	Placenta
3	chr14:25424200-25428600	Weak transcription	HepG2	liver
4	chr14:25424600-25460600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:25424800-25428800	Weak transcription	Stomach Mucosa	stomach
6	chr14:25424800-25429200	Weak transcription	Gastric	stomach
7	chr14:25425000-25429600	Enhancers	HSMMtube	muscle
8	chr14:25425200-25429600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:25425800-25429400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr14:25426200-25430000	Enhancers	Brain Anterior Caudate	brain
11	chr14:25426400-25435000	Weak transcription	Aorta	Aorta
12	chr14:25426600-25430600	Enhancers	Fetal Intestine Small	intestine
13	chr14:25426800-25428600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:25426800-25430600	Enhancers	Colon Smooth Muscle	Colon
15	chr14:25427000-25428800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:25427000-25428800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:25427000-25430000	Enhancers	Rectal Smooth Muscle	rectum
18	chr14:25427000-25430400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr14:25427000-25430600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:25427200-25430600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:25427200-25430600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr14:25427400-25430200	Enhancers	Brain Cingulate Gyrus	brain
23	chr14:25427400-25430600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:25427400-25430600	Enhancers	Fetal Intestine Large	intestine
25	chr14:25427400-25431000	Enhancers	Stomach Smooth Muscle	stomach
26	chr14:25427600-25428600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr14:25427600-25429200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr14:25427600-25429400	Enhancers	HSMM	muscle
29	chr14:25427600-25430200	Enhancers	Brain Substantia Nigra	brain
30	chr14:25427800-25430400	Enhancers	Fetal Heart	heart
31	chr14:25427800-25430600	Enhancers	Fetal Stomach	stomach
32	chr14:25428000-25429200	Enhancers	Fetal Kidney	kidney
33	chr14:25428000-25430000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:25428000-25430000	Enhancers	NHLF	lung
35	chr14:25428000-25430200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:25428000-25430400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr14:25428000-25430600	Enhancers	Brain Angular Gyrus	brain
38	chr14:25428200-25428600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:25428200-25428600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr14:25428200-25429600	Enhancers	Fetal Lung	lung
41	chr14:25428200-25430000	Enhancers	Duodenum Mucosa	Duodenum
42	chr14:25428200-25435000	Weak transcription	Osteobl	bone
43	chr14:25428400-25428600	Enhancers	Left Ventricle	heart
44	chr14:25428400-25428600	Enhancers	Pancreas	Pancrea
45	chr14:25428400-25428600	Enhancers	Right Ventricle	heart
46	chr14:25428400-25428600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr14:25428400-25429600	Enhancers	Adipose Nuclei	Adipose
48	chr14:25428400-25429600	Enhancers	Right Atrium	heart
49	chr14:25428400-25430000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:25428400-25430000	Enhancers	Fetal Muscle Leg	muscle

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