Variant report

Variant	rs1813
Chromosome Location	chr14:67804375-67804376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:67803883-67805124	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLEK2-3	chr14:67804104-67804493	NONHSAT037437

Variant related genes	Relation type
ENSG00000199755	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11539356	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2273835	1.00[MEX][hapmap]
rs2273836	1.00[MEX][hapmap]
rs3759756	0.87[ASN][1000 genomes]
rs41285536	0.86[EUR][1000 genomes]
rs41477648	1.00[MEX][hapmap]
rs41525547	1.00[MEX][hapmap]
rs45479091	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs45561936	0.95[EUR][1000 genomes]
rs57259066	0.93[ASN][1000 genomes]
rs58979599	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60541082	0.93[ASN][1000 genomes]
rs72715389	0.86[EUR][1000 genomes]
rs72717319	0.86[EUR][1000 genomes]
rs72717347	0.95[EUR][1000 genomes]
rs72717359	0.95[EUR][1000 genomes]
rs72717362	0.95[EUR][1000 genomes]
rs72717366	0.95[EUR][1000 genomes]
rs72717367	0.95[EUR][1000 genomes]
rs72717368	0.81[ASN][1000 genomes]
rs72717369	0.81[ASN][1000 genomes]
rs72717370	0.95[EUR][1000 genomes]
rs72717372	0.95[EUR][1000 genomes]
rs72717375	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717376	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717379	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717381	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717382	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72717383	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717385	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72717386	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717387	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717389	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717391	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717392	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72717393	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717397	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72717401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72719106	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72719108	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72719110	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72719111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72719115	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72719116	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72719118	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72719122	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72719125	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72719127	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72719128	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72719133	0.84[ASN][1000 genomes]
rs8015454	0.88[CHD][hapmap];1.00[JPT][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	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv902065	chr14:67739285-67819602	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1813	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67732400-67810000	Weak transcription	Gastric	stomach
2	chr14:67735600-67810000	Weak transcription	Aorta	Aorta
3	chr14:67762600-67825200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:67764400-67825200	Weak transcription	Stomach Mucosa	stomach
5	chr14:67767200-67804600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:67767200-67825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:67768600-67825800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:67769200-67804800	Weak transcription	Spleen	Spleen
9	chr14:67786400-67809200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:67789400-67804800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:67790400-67810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:67791600-67804600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:67791600-67820000	Weak transcription	Pancreas	Pancrea
14	chr14:67792000-67804600	Weak transcription	Lung	lung
15	chr14:67794200-67804800	Weak transcription	Fetal Intestine Small	intestine
16	chr14:67796400-67807600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:67796600-67807200	Strong transcription	HSMM	muscle
18	chr14:67796800-67807600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:67797000-67806400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:67797000-67807200	Strong transcription	Fetal Thymus	thymus
21	chr14:67797000-67820800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:67797200-67807400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr14:67797400-67807200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr14:67797400-67807200	Strong transcription	Fetal Intestine Large	intestine
25	chr14:67797400-67807400	Strong transcription	Placenta	Placenta
26	chr14:67797400-67807400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr14:67797600-67807200	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:67797600-67807400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:67797600-67807400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:67797600-67807400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:67797600-67807400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr14:67797600-67807400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:67797600-67807400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr14:67797600-67807400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr14:67797600-67807400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:67797600-67808000	Strong transcription	Adipose Nuclei	Adipose
37	chr14:67797800-67807400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:67798000-67807200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr14:67798000-67807400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr14:67798200-67807200	Strong transcription	Liver	Liver
41	chr14:67798200-67807200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr14:67798200-67807200	Strong transcription	NHDF-Ad	bronchial
43	chr14:67798200-67807400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:67798200-67807400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr14:67798200-67807400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr14:67798200-67807400	Strong transcription	GM12878-XiMat	blood
47	chr14:67798400-67806600	Strong transcription	Brain Hippocampus Middle	brain
48	chr14:67798400-67807000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:67798400-67807200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr14:67798400-67807200	Strong transcription	Stomach Smooth Muscle	stomach

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