Variant report

Variant	rs10141815
Chromosome Location	chr14:67549803-67549804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 213 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:203)

rs_ID	r²[population]
rs10047902	0.80[ASN][1000 genomes]
rs10047906	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10131242	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10132088	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10132565	0.85[ASN][1000 genomes]
rs10133107	0.84[ASN][1000 genomes]
rs10135100	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10135674	0.80[ASN][1000 genomes]
rs10135701	0.84[ASN][1000 genomes]
rs10136026	0.85[ASN][1000 genomes]
rs10136043	0.85[ASN][1000 genomes]
rs10136073	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10136344	0.85[ASN][1000 genomes]
rs10136622	0.84[ASN][1000 genomes]
rs10137618	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10138631	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10138850	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap]
rs10138865	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap]
rs10138952	0.94[ASN][1000 genomes]
rs10139792	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10140569	0.88[ASN][1000 genomes]
rs10141879	0.83[CHD][hapmap];0.81[JPT][hapmap]
rs10141947	0.98[ASN][1000 genomes]
rs10142059	0.83[ASN][1000 genomes]
rs10142152	0.80[ASN][1000 genomes]
rs10142878	0.84[ASN][1000 genomes]
rs10144090	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs10144371	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10145508	0.81[ASN][1000 genomes]
rs10145586	0.90[JPT][hapmap]
rs10146304	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10147852	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs10147954	0.84[ASN][1000 genomes]
rs10148117	0.86[ASN][1000 genomes]
rs10149600	0.97[ASN][1000 genomes]
rs10150098	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10150145	0.94[ASN][1000 genomes]
rs10150424	0.87[ASN][1000 genomes]
rs10151405	0.84[ASN][1000 genomes]
rs10151487	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10220477	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10431718	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs10459453	0.91[JPT][hapmap]
rs10483793	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1073607	0.91[JPT][hapmap]
rs1078194	0.82[JPT][hapmap]
rs1080053	0.81[ASN][1000 genomes]
rs10873197	0.85[ASN][1000 genomes]
rs10873198	0.84[ASN][1000 genomes]
rs10873200	0.91[JPT][hapmap]
rs11158649	0.85[ASN][1000 genomes]
rs11158651	0.86[ASN][1000 genomes]
rs11158652	0.83[ASN][1000 genomes]
rs11158655	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs11158658	0.86[JPT][hapmap]
rs1138802	0.81[ASN][1000 genomes]
rs12323494	0.90[JPT][hapmap]
rs12323911	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs12588821	0.86[ASN][1000 genomes]
rs12589218	0.91[JPT][hapmap]
rs12590689	0.84[ASN][1000 genomes]
rs12590956	0.82[JPT][hapmap]
rs1318914	0.91[JPT][hapmap]
rs13379476	0.85[ASN][1000 genomes]
rs13379478	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1546940	0.84[ASN][1000 genomes]
rs17104103	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs17104106	0.91[JPT][hapmap]
rs17104109	0.91[JPT][hapmap]
rs17104114	0.84[CHD][hapmap];0.82[JPT][hapmap]
rs17248252	0.82[ASN][1000 genomes]
rs17248357	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17248421	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17248526	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs1884066	0.88[ASN][1000 genomes]
rs1918483	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap]
rs1950281	0.83[ASN][1000 genomes]
rs1950282	0.84[ASN][1000 genomes]
rs1950284	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1955604	0.85[ASN][1000 genomes]
rs1955606	0.84[ASN][1000 genomes]
rs1955608	0.88[ASN][1000 genomes]
rs1955609	0.88[ASN][1000 genomes]
rs1955610	0.88[ASN][1000 genomes]
rs2013137	0.92[ASN][1000 genomes]
rs2038398	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2039055	0.85[ASN][1000 genomes]
rs2064489	0.84[ASN][1000 genomes]
rs2146230	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs2295903	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2319549	0.90[ASN][1000 genomes]
rs28368552	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28398007	0.90[ASN][1000 genomes]
rs28539317	0.84[ASN][1000 genomes]
rs28662990	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28685619	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28718312	0.88[ASN][1000 genomes]
rs28817965	0.84[ASN][1000 genomes]
rs28850894	0.84[ASN][1000 genomes]
rs3752993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3784078	0.84[ASN][1000 genomes]
rs3866760	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58221168	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59774616	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60550390	0.85[ASN][1000 genomes]
rs6573729	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6573732	0.81[ASN][1000 genomes]
rs6573733	0.81[ASN][1000 genomes]
rs6573734	0.84[ASN][1000 genomes]
rs6573735	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573736	0.81[ASN][1000 genomes]
rs6573737	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573740	0.88[ASN][1000 genomes]
rs6573741	0.89[ASN][1000 genomes]
rs6573742	0.92[ASN][1000 genomes]
rs6573743	0.83[ASN][1000 genomes]
rs6573744	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573745	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573746	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6573747	0.90[ASN][1000 genomes]
rs6573748	0.92[ASN][1000 genomes]
rs6573749	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6573750	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6573751	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6573752	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs6573755	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6573760	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs68178754	0.83[ASN][1000 genomes]
rs7141519	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs7142068	0.94[ASN][1000 genomes]
rs7144434	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7144580	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7145005	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7145295	0.85[ASN][1000 genomes]
rs7145917	0.83[ASN][1000 genomes]
rs7146098	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7146635	0.83[ASN][1000 genomes]
rs7146638	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7147534	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7147570	0.83[ASN][1000 genomes]
rs7147943	0.80[ASN][1000 genomes]
rs7149535	0.91[JPT][hapmap]
rs7149905	0.85[ASN][1000 genomes]
rs7150089	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7150739	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7150934	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7151086	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7152001	0.92[ASN][1000 genomes]
rs7152231	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7152422	0.83[ASN][1000 genomes]
rs7152903	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs7155042	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7156081	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7156655	0.81[ASN][1000 genomes]
rs7157126	0.84[ASN][1000 genomes]
rs7157394	0.82[ASN][1000 genomes]
rs7157418	0.81[ASN][1000 genomes]
rs7158228	0.82[ASN][1000 genomes]
rs7159871	0.88[ASN][1000 genomes]
rs7160476	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7161664	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs7161698	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs723432	0.81[ASN][1000 genomes]
rs728647	0.81[ASN][1000 genomes]
rs7493580	0.85[ASN][1000 genomes]
rs768770	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8003929	0.92[ASN][1000 genomes]
rs8004148	0.86[CHD][hapmap];0.81[JPT][hapmap]
rs8004488	0.84[CHD][hapmap];0.82[JPT][hapmap]
rs8005668	0.90[ASN][1000 genomes]
rs8006281	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8008236	0.91[JPT][hapmap]
rs8008739	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8009087	0.89[ASN][1000 genomes]
rs8009318	0.91[JPT][hapmap]
rs8010261	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs8012063	0.85[ASN][1000 genomes]
rs8012944	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8013401	0.88[ASN][1000 genomes]
rs8013724	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8013943	0.83[ASN][1000 genomes]
rs8014841	0.80[ASN][1000 genomes]
rs8015862	0.91[JPT][hapmap]
rs8016037	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs8016391	0.87[ASN][1000 genomes]
rs8016725	0.83[ASN][1000 genomes]
rs8018750	0.84[ASN][1000 genomes]
rs8019510	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs8020095	0.89[ASN][1000 genomes]
rs8021044	0.90[ASN][1000 genomes]
rs8021098	0.83[ASN][1000 genomes]
rs8021795	0.86[ASN][1000 genomes]
rs8021896	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs8022437	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8022657	0.83[ASN][1000 genomes]
rs9323486	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9323489	0.83[ASN][1000 genomes]
rs9323490	0.94[ASN][1000 genomes]
rs9323491	0.93[ASN][1000 genomes]
rs9323492	0.94[ASN][1000 genomes]
rs9323493	0.96[ASN][1000 genomes]
rs9743842	1.00[CEU][hapmap]
rs9743911	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10141815	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL
rs10141815	ATP6V1D	cis	lymphoblastoid	seeQTL
rs10141815	EIF2S1	cis	lymphoblastoid	seeQTL
rs10141815	EIF2S1	cis	multi-tissue	Pritchard
rs10141815	ATP6V1D	cis	Thyroid	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67511600-67556200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:67527600-67551200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:67534800-67576400	Weak transcription	Pancreas	Pancrea
4	chr14:67545200-67555400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:67545200-67569600	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:67545200-67569800	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:67545200-67570400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:67545400-67572000	Weak transcription	Brain Substantia Nigra	brain
9	chr14:67545600-67558200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:67548400-67590200	Weak transcription	Esophagus	oesophagus
11	chr14:67548800-67567400	Weak transcription	Left Ventricle	heart
12	chr14:67549000-67551600	Strong transcription	Liver	Liver
13	chr14:67549200-67562000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:67549200-67570800	Weak transcription	Psoas Muscle	Psoas
15	chr14:67549400-67561600	Weak transcription	Adipose Nuclei	Adipose
16	chr14:67549400-67569600	Weak transcription	Brain Anterior Caudate	brain
17	chr14:67549600-67568800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:67549600-67569600	Weak transcription	Aorta	Aorta
19	chr14:67549800-67554000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:67549800-67554600	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links