Variant report

Variant	rs3742523
Chromosome Location	chr14:25350288-25350289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11158959	0.84[CHD][hapmap];0.80[MEX][hapmap]
rs12432042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs56294606	0.98[ASN][1000 genomes]
rs7161445	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9743469	0.80[CEU][hapmap];0.87[CHD][hapmap];1.00[MEX][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
rs3742523	RNASE13	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25342800-25351000	Enhancers	Brain Substantia Nigra	brain
2	chr14:25343000-25351200	Enhancers	Brain Cingulate Gyrus	brain
3	chr14:25344000-25351000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:25344600-25354200	Weak transcription	Fetal Intestine Large	intestine
5	chr14:25346000-25358000	Weak transcription	Fetal Intestine Small	intestine
6	chr14:25346200-25350400	Weak transcription	Stomach Mucosa	stomach
7	chr14:25346200-25351200	Enhancers	Brain Anterior Caudate	brain
8	chr14:25346400-25350400	Weak transcription	Fetal Stomach	stomach
9	chr14:25346800-25350400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr14:25348800-25350600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:25348800-25350800	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr14:25348800-25351200	Enhancers	Fetal Heart	heart
13	chr14:25349000-25351000	Enhancers	Brain Hippocampus Middle	brain
14	chr14:25349000-25351200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:25349000-25351800	Enhancers	Fetal Muscle Leg	muscle
16	chr14:25349000-25351800	Enhancers	Left Ventricle	heart
17	chr14:25349200-25350400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr14:25349200-25351000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:25349200-25351200	Enhancers	Brain Angular Gyrus	brain
20	chr14:25349200-25351200	Enhancers	HepG2	liver
21	chr14:25349200-25361800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:25349400-25350400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:25349400-25350400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:25349400-25350400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:25349400-25350600	Enhancers	Adipose Nuclei	Adipose
26	chr14:25349400-25350600	Enhancers	NHDF-Ad	bronchial
27	chr14:25349600-25350400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:25349600-25350400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr14:25349600-25350600	Enhancers	Hela-S3	cervix
30	chr14:25349600-25351000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:25349600-25351000	Enhancers	Fetal Lung	lung
32	chr14:25349600-25351000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr14:25349600-25351000	Enhancers	Stomach Smooth Muscle	stomach
34	chr14:25349600-25351200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:25349800-25350600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr14:25349800-25350600	Weak transcription	Gastric	stomach
37	chr14:25349800-25350800	Enhancers	Colon Smooth Muscle	Colon
38	chr14:25349800-25350800	Weak transcription	Right Atrium	heart
39	chr14:25349800-25351000	Enhancers	HSMM	muscle
40	chr14:25349800-25352800	Weak transcription	Psoas Muscle	Psoas
41	chr14:25349800-25357000	Weak transcription	Right Ventricle	heart
42	chr14:25350000-25350400	Enhancers	Osteobl	bone
43	chr14:25350000-25351200	Enhancers	HSMMtube	muscle
44	chr14:25350200-25351000	Enhancers	Rectal Smooth Muscle	rectum
45	chr14:25350200-25351000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr14:25350200-25354400	Weak transcription	Pancreas	Pancrea

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