Variant report

Variant	rs1424845
Chromosome Location	chr14:80010662-80010663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10083466	0.81[ASW][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes]
rs10133502	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs10483923	0.84[CEU][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs11847985	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345974	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1424847	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424848	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17109414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019220	0.95[ASN][1000 genomes]
rs2216901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55809771	0.80[EUR][1000 genomes]
rs60536527	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61995207	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995209	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73324277	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs764379	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1424845	TMED8	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80005600-80011600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr14:80008400-80010800	Enhancers	Hela-S3	cervix
3	chr14:80008400-80013000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:80008800-80011800	Enhancers	Stomach Smooth Muscle	stomach
5	chr14:80008800-80012000	Enhancers	Osteobl	bone
6	chr14:80009400-80012000	Enhancers	Rectal Smooth Muscle	rectum
7	chr14:80009600-80010800	Enhancers	Aorta	Aorta
8	chr14:80009600-80011800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:80009600-80018000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:80009800-80011200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:80009800-80011400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr14:80010000-80010800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:80010000-80010800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:80010000-80011200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:80010000-80012000	Enhancers	NH-A	brain
16	chr14:80010200-80010800	Enhancers	NHEK	skin
17	chr14:80010200-80011000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:80010200-80011400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr14:80010200-80012800	Weak transcription	Pancreas	Pancrea
20	chr14:80010400-80015800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:80010400-80018000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:80010600-80011000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr14:80010600-80011000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr14:80010600-80011200	Enhancers	Colon Smooth Muscle	Colon
25	chr14:80010600-80011600	Enhancers	Brain Hippocampus Middle	brain
26	chr14:80010600-80011800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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