Variant report

Variant	rs7153936
Chromosome Location	chr14:67373841-67373842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10047902	0.82[ASN][1000 genomes]
rs10047906	0.83[ASN][1000 genomes]
rs10130604	0.81[ASN][1000 genomes]
rs10132261	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs10132565	0.84[ASN][1000 genomes]
rs10135100	0.81[ASN][1000 genomes]
rs10135117	0.90[ASN][1000 genomes]
rs10135674	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10135701	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10136026	0.84[ASN][1000 genomes]
rs10136043	0.81[ASN][1000 genomes]
rs10136344	0.84[ASN][1000 genomes]
rs10141952	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10142152	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10142176	0.83[ASN][1000 genomes]
rs10142878	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10143077	0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs10143670	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10144915	0.83[ASN][1000 genomes]
rs10147954	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10148117	0.83[ASN][1000 genomes]
rs10149760	0.81[ASN][1000 genomes]
rs10150098	0.86[ASN][1000 genomes]
rs10150268	0.85[ASN][1000 genomes]
rs10151107	0.81[ASN][1000 genomes]
rs10151405	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10151487	0.90[ASN][1000 genomes]
rs10162330	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10220477	0.82[ASN][1000 genomes]
rs1080053	0.83[ASN][1000 genomes]
rs10873197	0.84[ASN][1000 genomes]
rs10873198	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11158647	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11158649	0.84[ASN][1000 genomes]
rs11158650	0.90[ASN][1000 genomes]
rs12323781	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12587989	0.85[ASN][1000 genomes]
rs12588529	0.91[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap]
rs12588821	0.83[ASN][1000 genomes]
rs12590085	0.92[ASN][1000 genomes]
rs13379445	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13379476	0.84[ASN][1000 genomes]
rs13379478	0.86[ASN][1000 genomes]
rs17247749	0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap]
rs17247862	0.83[ASN][1000 genomes]
rs17836604	0.91[ASN][1000 genomes]
rs1884066	0.83[ASN][1000 genomes]
rs1950281	0.87[ASN][1000 genomes]
rs1955604	0.82[ASN][1000 genomes]
rs1955605	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1955608	0.81[ASN][1000 genomes]
rs1955609	0.81[ASN][1000 genomes]
rs1955610	0.81[ASN][1000 genomes]
rs1957297	1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs2013137	0.82[ASN][1000 genomes]
rs2038398	0.89[ASN][1000 genomes]
rs2064777	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2144909	0.83[ASN][1000 genomes]
rs2319549	0.85[ASN][1000 genomes]
rs28398007	0.85[ASN][1000 genomes]
rs28444104	0.83[ASN][1000 genomes]
rs28673894	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28718312	0.80[ASN][1000 genomes]
rs28762177	0.81[ASN][1000 genomes]
rs28817965	0.83[ASN][1000 genomes]
rs28828116	0.81[ASN][1000 genomes]
rs28850894	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3752993	0.91[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs3784074	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs3784075	0.91[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4141702	0.83[ASN][1000 genomes]
rs4141703	0.85[ASN][1000 genomes]
rs58367317	0.90[ASN][1000 genomes]
rs60550390	0.80[ASN][1000 genomes]
rs60656960	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61029022	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61386326	0.81[ASN][1000 genomes]
rs6573720	0.81[AMR][1000 genomes]
rs6573726	0.82[ASN][1000 genomes]
rs6573727	0.83[ASN][1000 genomes]
rs6573728	0.82[ASN][1000 genomes]
rs6573729	0.83[ASN][1000 genomes]
rs6573732	0.83[ASN][1000 genomes]
rs6573733	0.83[ASN][1000 genomes]
rs6573734	0.85[ASN][1000 genomes]
rs6573735	0.90[ASN][1000 genomes]
rs6573736	0.88[ASN][1000 genomes]
rs6573737	0.90[ASN][1000 genomes]
rs6573740	0.83[ASN][1000 genomes]
rs6573741	0.84[ASN][1000 genomes]
rs68178754	0.87[ASN][1000 genomes]
rs7141519	0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap]
rs7142068	0.81[ASN][1000 genomes]
rs7145718	0.83[ASN][1000 genomes]
rs7145844	0.90[ASN][1000 genomes]
rs7145917	0.87[ASN][1000 genomes]
rs7146098	0.90[ASN][1000 genomes]
rs7146635	0.87[ASN][1000 genomes]
rs7147570	0.87[ASN][1000 genomes]
rs7147943	0.83[ASN][1000 genomes]
rs7148911	0.85[ASN][1000 genomes]
rs7152422	0.87[ASN][1000 genomes]
rs7156081	0.89[ASN][1000 genomes]
rs7156655	0.83[ASN][1000 genomes]
rs7156852	0.85[ASN][1000 genomes]
rs7158760	0.84[ASN][1000 genomes]
rs7159871	0.81[ASN][1000 genomes]
rs7160476	0.85[ASN][1000 genomes]
rs7161664	0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap]
rs723432	0.88[ASN][1000 genomes]
rs728647	0.88[ASN][1000 genomes]
rs8003434	0.86[ASN][1000 genomes]
rs8005668	0.85[ASN][1000 genomes]
rs8006067	0.85[ASN][1000 genomes]
rs8007930	0.81[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs8012063	0.82[ASN][1000 genomes]
rs8012660	0.83[ASN][1000 genomes]
rs8013401	0.83[ASN][1000 genomes]
rs8013943	0.87[ASN][1000 genomes]
rs8014841	0.82[ASN][1000 genomes]
rs8016186	0.83[ASN][1000 genomes]
rs8016725	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8018750	0.81[ASN][1000 genomes]
rs8018920	0.83[ASN][1000 genomes]
rs8019510	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs8020095	0.81[ASN][1000 genomes]
rs8020144	0.83[ASN][1000 genomes]
rs8021044	0.80[ASN][1000 genomes]
rs8022437	0.83[ASN][1000 genomes]
rs8022657	0.87[ASN][1000 genomes]
rs9323479	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs9323486	0.82[ASN][1000 genomes]
rs9323488	0.81[ASN][1000 genomes]
rs9323489	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9743488	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7153936	EIF2S1	cis	lymphoblastoid	seeQTL
rs7153936	ATP6V1D	cis	Thyroid	GTEx
rs7153936	ATP6V1D	cis	lung	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67356200-67377600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:67360200-67382800	Weak transcription	Left Ventricle	heart
3	chr14:67371600-67389200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:67372600-67393600	Weak transcription	Fetal Brain Female	brain
5	chr14:67372800-67384200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:67373000-67407200	Weak transcription	Gastric	stomach
7	chr14:67373200-67394600	Weak transcription	Esophagus	oesophagus
8	chr14:67373200-67406200	Weak transcription	Pancreas	Pancrea
9	chr14:67373400-67398600	Weak transcription	GM12878-XiMat	blood

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