Variant report

Variant	rs941745
Chromosome Location	chr14:32904231-32904232
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11156744	1.00[JPT][hapmap]
rs11156747	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11621072	0.85[CHB][hapmap]
rs11622937	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11623071	1.00[ASN][1000 genomes]
rs12881167	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12882489	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12886529	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12886735	0.86[ASN][1000 genomes]
rs12891308	1.00[JPT][hapmap]
rs12894356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17410904	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1951187	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1957025	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1957026	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2383304	1.00[ASN][1000 genomes]
rs34757755	1.00[ASN][1000 genomes]
rs34976846	1.00[ASN][1000 genomes]
rs61981143	1.00[ASN][1000 genomes]
rs941749	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs941745	C14orf128	cis	parietal	SCAN
rs941745	SCFD1	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32897600-32908400	Weak transcription	Fetal Brain Female	brain
2	chr14:32898000-32906200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:32898200-32908200	Weak transcription	Right Atrium	heart
4	chr14:32898400-32908400	Weak transcription	Psoas Muscle	Psoas
5	chr14:32899000-32913400	Weak transcription	Fetal Lung	lung
6	chr14:32899600-32906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:32899800-32907400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:32900000-32905800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:32901800-32907800	Active TSS	Aorta	Aorta
10	chr14:32902000-32904400	Enhancers	Brain Substantia Nigra	brain
11	chr14:32902200-32904400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr14:32902600-32904400	Genic enhancers	Brain Anterior Caudate	brain
13	chr14:32902600-32904600	Strong transcription	Brain Germinal Matrix	brain
14	chr14:32902800-32904400	Enhancers	Colon Smooth Muscle	Colon
15	chr14:32902800-32905800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr14:32902800-32907200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:32902800-32907400	Weak transcription	Fetal Heart	heart
18	chr14:32903000-32904400	Active TSS	Ovary	ovary
19	chr14:32903000-32904800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr14:32903000-32906200	Weak transcription	Right Ventricle	heart
21	chr14:32903000-32907000	Weak transcription	Small Intestine	intestine
22	chr14:32903000-32910200	Weak transcription	Esophagus	oesophagus
23	chr14:32903200-32904400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:32903200-32904400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr14:32903200-32904600	Active TSS	Stomach Smooth Muscle	stomach
26	chr14:32903400-32906400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:32903400-32908200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:32903600-32904400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:32903600-32908600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:32903800-32906400	Weak transcription	Left Ventricle	heart
31	chr14:32903800-32907200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:32904000-32904400	Enhancers	Brain Hippocampus Middle	brain
33	chr14:32904000-32904600	Active TSS	GM12878-XiMat	blood
34	chr14:32904200-32905600	Weak transcription	Brain Angular Gyrus	brain
35	chr14:32904200-32905800	Weak transcription	Brain Cingulate Gyrus	brain

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