Variant report

Variant	rs764039
Chromosome Location	chr14:67746721-67746722
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67733714..67736125-chr14:67745424..67748088,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1006595	0.84[CHB][hapmap]
rs12588458	0.83[CHB][hapmap]
rs1290900	0.87[CEU][hapmap];0.82[CHB][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1952337	0.88[CEU][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes]
rs2031564	0.82[JPT][hapmap]
rs2094163	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2296561	0.83[JPT][hapmap]
rs2319777	0.82[JPT][hapmap]
rs4636843	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs6573765	0.83[JPT][hapmap]
rs7141756	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8007868	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8015819	0.83[JPT][hapmap]
rs9743912	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	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
4	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv1040257	chr14:67634585-67762806	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
rs764039	EIF2S1	cis	multi-tissue	Pritchard

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67721400-67798400	Weak transcription	Hela-S3	cervix
2	chr14:67730800-67769800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:67732400-67810000	Weak transcription	Gastric	stomach
4	chr14:67733600-67747800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr14:67734200-67760200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr14:67734800-67768600	Weak transcription	GM12878-XiMat	blood
7	chr14:67735200-67760200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:67735400-67771600	Weak transcription	NHEK	skin
9	chr14:67735400-67778600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:67735400-67798400	Weak transcription	K562	blood
11	chr14:67735600-67751200	Weak transcription	Pancreas	Pancrea
12	chr14:67735600-67752800	Weak transcription	Esophagus	oesophagus
13	chr14:67735600-67754800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:67735600-67770000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:67735600-67772000	Weak transcription	Lung	lung
16	chr14:67735600-67810000	Weak transcription	Aorta	Aorta
17	chr14:67736200-67768600	Weak transcription	Fetal Thymus	thymus
18	chr14:67736600-67762400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr14:67736600-67770600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:67736800-67760400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr14:67737000-67759800	Weak transcription	NH-A	brain
22	chr14:67737000-67768200	Weak transcription	HMEC	breast
23	chr14:67737000-67768400	Weak transcription	A549	lung
24	chr14:67737000-67769800	Weak transcription	Ovary	ovary
25	chr14:67737000-67777600	Weak transcription	HepG2	liver
26	chr14:67737200-67747000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:67737200-67768000	Weak transcription	Osteobl	bone
28	chr14:67737200-67772200	Weak transcription	Fetal Muscle Leg	muscle
29	chr14:67737200-67801400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:67737400-67759200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:67737400-67759400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr14:67737400-67768600	Weak transcription	NHDF-Ad	bronchial
33	chr14:67737800-67750400	Weak transcription	Placenta	Placenta
34	chr14:67738200-67748800	Weak transcription	Fetal Kidney	kidney
35	chr14:67738200-67759200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:67738200-67778600	Weak transcription	HSMMtube	muscle
37	chr14:67738200-67786400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:67738400-67759200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:67738400-67769200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:67738600-67772000	Weak transcription	Fetal Stomach	stomach
41	chr14:67739600-67770600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:67739800-67759200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:67739800-67760400	Weak transcription	Dnd41	blood
44	chr14:67739800-67765600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:67739800-67768200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:67739800-67769600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:67739800-67769800	Weak transcription	Primary T cells from cord blood	blood
48	chr14:67739800-67770200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr14:67739800-67771600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:67739800-67778600	Weak transcription	Left Ventricle	heart

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