Variant report

Variant	rs17109307
Chromosome Location	chr14:25384645-25384646
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:7)

rs_ID	r²[population]
rs11847172	0.83[GIH][hapmap]
rs12896213	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17109350	0.83[GIH][hapmap]
rs1951799	0.84[CEU][hapmap];0.85[GIH][hapmap]
rs1980712	0.95[CEU][hapmap];0.87[GIH][hapmap]
rs2057499	0.94[CEU][hapmap]
rs4983037	0.83[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1041445	chr14:25326692-25388290	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17109307	RNF31	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25379400-25397800	Weak transcription	Right Ventricle	heart
2	chr14:25381000-25385400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:25381000-25389800	Weak transcription	Left Ventricle	heart
4	chr14:25381200-25384800	Enhancers	Brain Anterior Caudate	brain
5	chr14:25381200-25385200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:25381200-25385200	Weak transcription	A549	lung
7	chr14:25381200-25385400	Weak transcription	Stomach Mucosa	stomach
8	chr14:25381200-25387800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:25381200-25388200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:25381200-25389800	Weak transcription	Pancreas	Pancrea
11	chr14:25381400-25385600	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:25381400-25397800	Weak transcription	Fetal Intestine Small	intestine
13	chr14:25382200-25388200	Enhancers	Brain Substantia Nigra	brain
14	chr14:25382800-25385200	Enhancers	Brain Hippocampus Middle	brain
15	chr14:25382800-25385200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:25383200-25385400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:25383400-25386200	Weak transcription	Fetal Heart	heart
18	chr14:25383800-25385000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr14:25383800-25385400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr14:25384000-25386400	Enhancers	HepG2	liver
21	chr14:25384200-25385800	Weak transcription	HSMMtube	muscle
22	chr14:25384200-25387600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:25384600-25385400	Weak transcription	Fetal Lung	lung
24	chr14:25384600-25386000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr14:25384600-25387800	Weak transcription	Brain Angular Gyrus	brain

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