Variant report

Variant	rs12894282
Chromosome Location	chr14:25312418-25312419
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1052484	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11550670	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1241640	0.85[MEX][hapmap]
rs1241641	0.85[MEX][hapmap]
rs12887071	1.00[CHD][hapmap];0.96[GIH][hapmap]
rs17185439	1.00[ASW][hapmap]
rs17200568	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17200624	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35131265	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35990769	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71405871	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681097	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854325	1.00[CHD][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12894282	EDDM3B	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25288600-25322800	Weak transcription	Placenta	Placenta
2	chr14:25288800-25317400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:25306600-25321200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:25307200-25315000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:25307200-25319400	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:25308400-25315000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:25308800-25316800	Weak transcription	Fetal Lung	lung
8	chr14:25309000-25315000	Weak transcription	Brain Angular Gyrus	brain
9	chr14:25309000-25328000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr14:25309600-25315000	Weak transcription	Brain Substantia Nigra	brain
11	chr14:25309600-25316800	Weak transcription	Fetal Brain Male	brain
12	chr14:25309800-25312600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr14:25309800-25313000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr14:25309800-25313000	Weak transcription	Right Ventricle	heart
15	chr14:25309800-25313200	Weak transcription	Lung	lung
16	chr14:25309800-25315000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:25309800-25315000	Weak transcription	Brain Anterior Caudate	brain
18	chr14:25309800-25315000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:25309800-25315000	Weak transcription	Right Atrium	heart
20	chr14:25309800-25315000	Weak transcription	HSMMtube	muscle
21	chr14:25309800-25317000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:25309800-25323000	Weak transcription	Pancreas	Pancrea
23	chr14:25309800-25324400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:25310000-25312600	Weak transcription	Fetal Heart	heart
25	chr14:25310000-25313000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:25310000-25313000	Weak transcription	Stomach Mucosa	stomach
27	chr14:25310000-25314800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:25310000-25315000	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:25310000-25315000	Weak transcription	HSMM	muscle
30	chr14:25310000-25315200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:25310000-25321000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr14:25310200-25320800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:25310400-25312800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:25311600-25312600	Weak transcription	Fetal Intestine Small	intestine
35	chr14:25311600-25312600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:25311600-25313000	Weak transcription	Left Ventricle	heart
37	chr14:25311600-25314400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:25311800-25312600	Weak transcription	HepG2	liver
39	chr14:25312200-25313400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:25312400-25314200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr14:25312400-25315800	Enhancers	Fetal Intestine Large	intestine

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