Variant report

Variant	rs2319777
Chromosome Location	chr14:67810033-67810034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67809005..67811085-chr14:67811168..67813590,2	K562	blood:
2	chr14:67809333..67811728-chr14:67818021..67819593,2	MCF-7	breast:

Extended variants
information (count: 128 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs1006595	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.83[ASN][1000 genomes]
rs10129185	0.93[ASN][1000 genomes]
rs10131212	0.81[CHD][hapmap]
rs10131984	0.92[EUR][1000 genomes]
rs10132093	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10137557	0.86[CHB][hapmap]
rs10138755	0.81[CHB][hapmap]
rs10138824	0.81[CHD][hapmap]
rs10138850	0.91[EUR][1000 genomes]
rs10138865	0.91[EUR][1000 genomes]
rs10139953	0.90[ASN][1000 genomes]
rs10141180	0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10141879	0.80[CHD][hapmap];0.82[JPT][hapmap]
rs10144090	0.81[CHD][hapmap]
rs10144122	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10144417	0.82[CHD][hapmap]
rs10144774	0.93[ASN][1000 genomes]
rs10145508	0.90[EUR][1000 genomes]
rs10145511	0.92[EUR][1000 genomes]
rs10146389	0.83[ASN][1000 genomes]
rs10147362	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10147852	0.81[CHD][hapmap]
rs10149615	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10150082	0.83[EUR][1000 genomes]
rs10431718	0.81[CHD][hapmap]
rs1044745	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1045060	0.82[CHD][hapmap]
rs1078194	0.83[JPT][hapmap]
rs11158653	1.00[CEU][hapmap];0.88[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs11158655	0.81[CHD][hapmap]
rs12588292	0.86[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs12588458	0.82[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12590065	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs12590689	0.92[EUR][1000 genomes]
rs12590956	0.83[JPT][hapmap]
rs1473732	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1535491	0.81[CHD][hapmap]
rs17104103	0.82[CHD][hapmap]
rs17104114	0.91[CEU][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs17104202	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17248526	0.81[CHD][hapmap]
rs17248616	0.80[CHB][hapmap]
rs1885590	0.86[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs1918483	0.92[EUR][1000 genomes]
rs2031563	0.82[CHD][hapmap]
rs2031564	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2094162	0.91[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2146229	0.81[CHD][hapmap]
rs2146230	0.80[CHD][hapmap]
rs2148160	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2281676	0.91[EUR][1000 genomes]
rs2296560	0.81[CHD][hapmap]
rs2296561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2296562	0.90[ASN][1000 genomes]
rs2296563	0.89[ASN][1000 genomes]
rs28521373	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3759755	0.82[CHD][hapmap]
rs3784085	0.91[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs3818467	0.82[CHD][hapmap]
rs3844530	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4143909	0.86[JPT][hapmap]
rs4636843	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57154550	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs58257525	0.90[ASN][1000 genomes]
rs60505324	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61612119	0.96[EUR][1000 genomes]
rs6573752	0.90[EUR][1000 genomes]
rs6573758	0.96[EUR][1000 genomes]
rs6573760	0.94[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.96[EUR][1000 genomes]
rs6573763	0.84[JPT][hapmap]
rs6573765	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6573768	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573769	0.91[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs6573770	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs66851210	0.91[ASN][1000 genomes]
rs67968914	0.92[ASN][1000 genomes]
rs68002629	0.89[ASN][1000 genomes]
rs7147207	0.92[EUR][1000 genomes]
rs7148044	0.90[EUR][1000 genomes]
rs7148425	0.92[EUR][1000 genomes]
rs7151898	0.92[EUR][1000 genomes]
rs7152903	0.80[CHD][hapmap]
rs7153725	0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7154607	0.86[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs7156119	0.92[EUR][1000 genomes]
rs7156441	0.82[CHD][hapmap]
rs7157704	0.89[ASN][1000 genomes]
rs73279056	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73280987	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73282707	0.87[ASN][1000 genomes]
rs73284892	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs764039	0.82[JPT][hapmap]
rs8003327	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8004148	0.83[CEU][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs8004488	0.88[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.87[YRI][hapmap];0.96[EUR][1000 genomes]
rs8005756	0.88[ASN][1000 genomes]
rs8005876	0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs8005981	0.87[EUR][1000 genomes]
rs8006042	0.87[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs8006519	0.82[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap]
rs8007033	0.80[CHD][hapmap]
rs8007696	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8007866	0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs8008443	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs8008619	0.82[CHD][hapmap]
rs8008724	0.82[CHD][hapmap]
rs8010261	0.92[EUR][1000 genomes]
rs8015641	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs8015819	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8016024	0.91[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs8016037	0.81[CHD][hapmap]
rs8019109	0.85[ASN][1000 genomes]
rs8020850	0.91[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs8021896	0.81[CHD][hapmap]
rs8021992	0.81[ASN][1000 genomes]
rs9323497	0.88[ASW][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap]
rs960797	0.86[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs9743912	0.82[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9743983	0.91[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2319777	ZFYVE26	cis	cerebellum	SCAN
rs2319777	EIF2S1	cis	lymphoblastoid	seeQTL
rs2319777	EIF2S1	cis	multi-tissue	Pritchard
rs2319777	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL
rs2319777	FAM71D	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67762600-67825200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:67764400-67825200	Weak transcription	Stomach Mucosa	stomach
3	chr14:67767200-67825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:67768600-67825800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:67790400-67810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:67791600-67820000	Weak transcription	Pancreas	Pancrea
7	chr14:67797000-67820800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:67798400-67819400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:67798400-67820200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:67800000-67825200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:67800400-67820200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:67805000-67813800	Weak transcription	Psoas Muscle	Psoas
13	chr14:67805200-67810600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:67805200-67811400	Weak transcription	Spleen	Spleen
15	chr14:67805200-67815600	Weak transcription	Fetal Brain Male	brain
16	chr14:67805200-67819600	Weak transcription	Esophagus	oesophagus
17	chr14:67805200-67823600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:67805400-67810200	Weak transcription	Small Intestine	intestine
19	chr14:67805400-67817200	Weak transcription	HepG2	liver
20	chr14:67806000-67814000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:67806200-67810200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:67806200-67819000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:67806400-67810600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr14:67806400-67815400	Weak transcription	Colonic Mucosa	Colon
25	chr14:67807000-67810200	Weak transcription	Fetal Intestine Small	intestine
26	chr14:67807000-67810200	Weak transcription	Fetal Stomach	stomach
27	chr14:67807200-67810200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:67807200-67810400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:67807200-67810800	Weak transcription	K562	blood
30	chr14:67807400-67810600	Weak transcription	Hela-S3	cervix
31	chr14:67808400-67810600	Strong transcription	HUVEC	blood vessel
32	chr14:67808400-67820400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:67808400-67823400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:67808600-67820200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr14:67808600-67820400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr14:67808800-67820200	Strong transcription	Adipose Nuclei	Adipose
37	chr14:67809000-67810200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:67809000-67811400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:67809000-67813600	Strong transcription	NHDF-Ad	bronchial
40	chr14:67809000-67817000	Strong transcription	Brain Germinal Matrix	brain
41	chr14:67809000-67817400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:67809000-67817800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr14:67809000-67819200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:67809000-67819200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:67809000-67820000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr14:67809000-67820000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr14:67809000-67820200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:67809000-67820200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr14:67809000-67820200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:67809000-67820200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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