Variant report

Variant	rs2319549
Chromosome Location	chr14:67453393-67453394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67447429..67450664-chr14:67451355..67453565,3	MCF-7	breast:
2	chr14:67399698..67402646-chr14:67452739..67454975,2	MCF-7	breast:
3	chr14:67452240..67454374-chr14:67454933..67457036,2	K562	blood:

Extended variants
information (count: 219 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:201)

rs_ID	r²[population]
rs10047902	0.85[ASN][1000 genomes]
rs10047906	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10130604	0.83[ASN][1000 genomes]
rs10131242	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10132565	0.95[ASN][1000 genomes]
rs10132625	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10133107	0.86[ASN][1000 genomes]
rs10135100	0.90[ASN][1000 genomes]
rs10135117	0.89[ASN][1000 genomes]
rs10135674	0.84[ASN][1000 genomes]
rs10135701	0.94[ASN][1000 genomes]
rs10136026	0.95[ASN][1000 genomes]
rs10136043	0.95[ASN][1000 genomes]
rs10136073	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10136344	0.95[ASN][1000 genomes]
rs10136622	0.85[ASN][1000 genomes]
rs10137618	0.88[ASN][1000 genomes]
rs10138631	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10138850	0.95[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap]
rs10138865	0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap]
rs10138952	0.89[ASN][1000 genomes]
rs10140569	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10141815	0.90[ASN][1000 genomes]
rs10141947	0.88[ASN][1000 genomes]
rs10142059	0.85[ASN][1000 genomes]
rs10142152	0.90[ASN][1000 genomes]
rs10142176	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10142878	0.94[ASN][1000 genomes]
rs10144915	0.86[ASN][1000 genomes]
rs10146304	0.89[ASN][1000 genomes]
rs10147954	0.94[ASN][1000 genomes]
rs10148117	0.97[ASN][1000 genomes]
rs10149600	0.87[ASN][1000 genomes]
rs10149760	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10150098	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10150145	0.89[ASN][1000 genomes]
rs10150424	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10151107	0.81[ASN][1000 genomes]
rs10151405	0.94[ASN][1000 genomes]
rs10151487	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10220477	0.92[ASN][1000 genomes]
rs10483793	0.81[ASN][1000 genomes]
rs1080053	0.86[ASN][1000 genomes]
rs10873197	0.95[ASN][1000 genomes]
rs10873198	0.94[ASN][1000 genomes]
rs11158649	0.95[ASN][1000 genomes]
rs11158650	0.86[ASN][1000 genomes]
rs11158651	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11158652	0.84[ASN][1000 genomes]
rs1138802	0.91[ASN][1000 genomes]
rs12587989	0.88[ASN][1000 genomes]
rs12588821	0.97[ASN][1000 genomes]
rs13379445	0.88[ASN][1000 genomes]
rs13379476	0.95[ASN][1000 genomes]
rs13379478	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1546940	0.86[ASN][1000 genomes]
rs17247862	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17248421	0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs1884066	0.98[ASN][1000 genomes]
rs1918483	0.95[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap]
rs1950281	0.92[ASN][1000 genomes]
rs1950282	0.86[ASN][1000 genomes]
rs1950284	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1950689	0.82[ASN][1000 genomes]
rs1955604	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1955606	0.86[ASN][1000 genomes]
rs1955608	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1955609	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1955610	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1957297	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2013137	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2038398	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2064489	0.86[ASN][1000 genomes]
rs2144909	0.86[ASN][1000 genomes]
rs28398007	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444104	0.86[ASN][1000 genomes]
rs28539317	0.86[ASN][1000 genomes]
rs28662990	0.84[ASN][1000 genomes]
rs28668670	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28673894	0.84[ASN][1000 genomes]
rs28685619	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28718312	0.90[ASN][1000 genomes]
rs28762177	0.84[ASN][1000 genomes]
rs28817965	0.94[ASN][1000 genomes]
rs28828116	0.84[ASN][1000 genomes]
rs28850894	0.94[ASN][1000 genomes]
rs3752993	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3784074	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs3784075	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3866760	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs4141702	0.86[ASN][1000 genomes]
rs4141703	0.88[ASN][1000 genomes]
rs56094582	0.83[ASN][1000 genomes]
rs56189117	0.82[ASN][1000 genomes]
rs58367317	0.89[ASN][1000 genomes]
rs59774616	0.90[ASN][1000 genomes]
rs60550390	0.95[ASN][1000 genomes]
rs60656960	0.89[ASN][1000 genomes]
rs61386326	0.84[ASN][1000 genomes]
rs6573726	0.85[ASN][1000 genomes]
rs6573727	0.86[ASN][1000 genomes]
rs6573728	0.85[ASN][1000 genomes]
rs6573729	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6573732	0.86[ASN][1000 genomes]
rs6573733	0.86[ASN][1000 genomes]
rs6573734	0.88[ASN][1000 genomes]
rs6573735	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6573736	0.91[ASN][1000 genomes]
rs6573737	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6573740	0.98[ASN][1000 genomes]
rs6573741	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573742	0.94[ASN][1000 genomes]
rs6573743	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6573744	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6573745	0.86[ASN][1000 genomes]
rs6573746	0.88[ASN][1000 genomes]
rs6573747	0.88[ASN][1000 genomes]
rs6573748	0.87[ASN][1000 genomes]
rs6573749	0.91[ASN][1000 genomes]
rs6573750	0.90[ASN][1000 genomes]
rs6573751	0.83[ASN][1000 genomes]
rs6573752	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap]
rs68178754	0.92[ASN][1000 genomes]
rs7141519	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7142068	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7144434	0.88[ASN][1000 genomes]
rs7144580	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7145005	0.85[ASN][1000 genomes]
rs7145226	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7145295	0.86[ASN][1000 genomes]
rs7145718	0.86[ASN][1000 genomes]
rs7145844	0.89[ASN][1000 genomes]
rs7145917	0.90[ASN][1000 genomes]
rs7146098	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7146635	0.92[ASN][1000 genomes]
rs7146638	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs7147570	0.92[ASN][1000 genomes]
rs7147943	0.85[ASN][1000 genomes]
rs7148911	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7149711	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7149905	0.86[ASN][1000 genomes]
rs7150131	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7150739	0.89[ASN][1000 genomes]
rs7151086	0.88[ASN][1000 genomes]
rs7152001	0.94[ASN][1000 genomes]
rs7152422	0.92[ASN][1000 genomes]
rs7153936	0.85[ASN][1000 genomes]
rs7155042	0.90[ASN][1000 genomes]
rs7156081	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7156655	0.86[ASN][1000 genomes]
rs7156852	0.81[ASN][1000 genomes]
rs7157126	0.86[ASN][1000 genomes]
rs7158760	0.83[ASN][1000 genomes]
rs7159871	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7160476	0.88[ASN][1000 genomes]
rs7161664	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7161698	0.92[ASN][1000 genomes]
rs723432	0.91[ASN][1000 genomes]
rs728647	0.91[ASN][1000 genomes]
rs73274960	0.88[ASN][1000 genomes]
rs768770	0.84[ASN][1000 genomes]
rs8003434	0.83[ASN][1000 genomes]
rs8003929	0.88[ASN][1000 genomes]
rs8005668	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006067	0.88[ASN][1000 genomes]
rs8006552	0.82[ASN][1000 genomes]
rs8006669	0.83[ASN][1000 genomes]
rs8008739	0.92[ASN][1000 genomes]
rs8008773	0.83[ASN][1000 genomes]
rs8009087	0.82[ASN][1000 genomes]
rs8010261	0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap]
rs8012063	0.95[ASN][1000 genomes]
rs8012660	0.86[ASN][1000 genomes]
rs8012944	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8013401	0.98[ASN][1000 genomes]
rs8013724	0.84[ASN][1000 genomes]
rs8013943	0.92[ASN][1000 genomes]
rs8014841	0.85[ASN][1000 genomes]
rs8016186	0.86[ASN][1000 genomes]
rs8016391	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8016725	0.92[ASN][1000 genomes]
rs8018545	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8018750	0.94[ASN][1000 genomes]
rs8018920	0.86[ASN][1000 genomes]
rs8019510	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs8020095	0.97[ASN][1000 genomes]
rs8020144	0.83[ASN][1000 genomes]
rs8021044	0.95[ASN][1000 genomes]
rs8021098	0.85[ASN][1000 genomes]
rs8021795	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8022437	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8022657	0.92[ASN][1000 genomes]
rs9323485	0.81[ASN][1000 genomes]
rs9323486	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9323488	0.84[ASN][1000 genomes]
rs9323489	0.84[ASN][1000 genomes]
rs9323490	0.89[ASN][1000 genomes]
rs9323491	0.88[ASN][1000 genomes]
rs9323492	0.89[ASN][1000 genomes]
rs9323493	0.86[ASN][1000 genomes]
rs9671368	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv1834170	chr14:67103140-67527235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2829998	chr14:67103579-67626594	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1838724	chr14:67232573-67527235	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2763071	chr14:67284476-67597237	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	nsv902061	chr14:67418872-67482629	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv564958	chr14:67429672-67453393	Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv902062	chr14:67429672-67481044	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv1841498	chr14:67434470-67634318	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv564959	chr14:67435182-67456086	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv902063	chr14:67435567-67459554	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv902064	chr14:67441407-67485640	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv564960	chr14:67449344-67549803	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2319549	EIF2S1	cis	multi-tissue	Pritchard
rs2319549	EIF2S1	cis	lymphoblastoid	seeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67414800-67480000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr14:67415600-67486400	Weak transcription	Pancreas	Pancrea
3	chr14:67416400-67491200	Weak transcription	Left Ventricle	heart
4	chr14:67418000-67491400	Weak transcription	Ovary	ovary
5	chr14:67424800-67456000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:67424800-67499000	Weak transcription	Aorta	Aorta
7	chr14:67427000-67460800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:67427600-67464800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:67427600-67498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:67427800-67459200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:67428000-67454000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:67429800-67469600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:67432600-67454600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:67438000-67491400	Weak transcription	Fetal Intestine Small	intestine
15	chr14:67446200-67474600	Weak transcription	Fetal Kidney	kidney
16	chr14:67446600-67464200	Weak transcription	GM12878-XiMat	blood
17	chr14:67447000-67468600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:67447200-67490600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:67449200-67491000	Weak transcription	Adipose Nuclei	Adipose
20	chr14:67449800-67491400	Weak transcription	Right Ventricle	heart
21	chr14:67450800-67459200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:67451400-67468600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:67451400-67476800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr14:67452000-67471400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:67452200-67453600	Weak transcription	Liver	Liver
26	chr14:67452200-67455200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr14:67452600-67477200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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