Variant report

Variant	rs12323781
Chromosome Location	chr14:67295216-67295217
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 207 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:185)

rs_ID	r²[population]
rs10047902	0.87[ASN][1000 genomes]
rs10047906	0.89[ASN][1000 genomes]
rs10129788	0.81[ASN][1000 genomes]
rs10129827	0.81[ASN][1000 genomes]
rs10130433	0.82[ASN][1000 genomes]
rs10130604	0.86[ASN][1000 genomes]
rs10132261	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs10132625	0.83[ASN][1000 genomes]
rs10135117	0.83[ASN][1000 genomes]
rs10135674	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10135701	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10136226	0.80[ASN][1000 genomes]
rs10137887	0.81[ASN][1000 genomes]
rs10139125	0.82[ASN][1000 genomes]
rs10142152	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10142174	0.82[ASN][1000 genomes]
rs10142176	0.89[ASN][1000 genomes]
rs10142878	0.83[ASN][1000 genomes]
rs10142894	0.80[ASN][1000 genomes]
rs10143077	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10143670	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10144915	0.88[ASN][1000 genomes]
rs10144919	0.82[ASN][1000 genomes]
rs10145550	0.82[ASN][1000 genomes]
rs10147954	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10148162	0.81[ASN][1000 genomes]
rs10148305	0.81[AMR][1000 genomes]
rs10148469	0.81[ASN][1000 genomes]
rs10148703	0.82[ASN][1000 genomes]
rs10149085	0.82[ASN][1000 genomes]
rs10149760	0.87[ASN][1000 genomes]
rs10150098	0.81[ASN][1000 genomes]
rs10150268	0.92[ASN][1000 genomes]
rs10151107	0.84[ASN][1000 genomes]
rs10151405	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10151487	0.85[ASN][1000 genomes]
rs10162330	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10162523	0.82[ASN][1000 genomes]
rs1080053	0.85[ASN][1000 genomes]
rs10873198	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11158646	0.80[ASN][1000 genomes]
rs11158647	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11158650	0.84[ASN][1000 genomes]
rs12587989	0.90[ASN][1000 genomes]
rs12588121	0.80[ASN][1000 genomes]
rs12588529	0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs12588717	0.81[ASN][1000 genomes]
rs12590085	0.96[ASN][1000 genomes]
rs13379445	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13379478	0.81[ASN][1000 genomes]
rs17247749	0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs17247792	0.82[ASN][1000 genomes]
rs17247862	0.89[ASN][1000 genomes]
rs17836585	0.82[ASN][1000 genomes]
rs17836604	0.95[ASN][1000 genomes]
rs1950281	0.82[ASN][1000 genomes]
rs1950689	0.84[ASN][1000 genomes]
rs1952070	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs1955605	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1957297	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs1957298	0.81[ASN][1000 genomes]
rs1957299	0.81[ASN][1000 genomes]
rs2038398	0.83[ASN][1000 genomes]
rs2064777	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2104110	0.81[ASN][1000 genomes]
rs2104111	0.81[ASN][1000 genomes]
rs2144909	0.89[ASN][1000 genomes]
rs2319497	0.82[ASN][1000 genomes]
rs2319498	0.82[ASN][1000 genomes]
rs28415873	0.82[ASN][1000 genomes]
rs28444104	0.88[ASN][1000 genomes]
rs28624837	0.82[ASN][1000 genomes]
rs28668670	0.83[ASN][1000 genomes]
rs28673894	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28691257	0.81[ASN][1000 genomes]
rs28732976	0.81[ASN][1000 genomes]
rs2873997	0.81[ASN][1000 genomes]
rs2873998	0.82[ASN][1000 genomes]
rs28762177	0.87[ASN][1000 genomes]
rs28828116	0.87[ASN][1000 genomes]
rs28850894	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3784074	0.91[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs3784075	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4141702	0.88[ASN][1000 genomes]
rs4141703	0.90[ASN][1000 genomes]
rs55901762	0.82[ASN][1000 genomes]
rs55901843	0.82[ASN][1000 genomes]
rs56094582	0.85[ASN][1000 genomes]
rs56189117	0.84[ASN][1000 genomes]
rs57142513	0.81[AMR][1000 genomes]
rs57472724	0.83[AMR][1000 genomes]
rs57784045	0.81[AMR][1000 genomes]
rs58367317	0.83[ASN][1000 genomes]
rs60656960	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61029022	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61386326	0.87[ASN][1000 genomes]
rs6573713	0.81[ASN][1000 genomes]
rs6573714	0.81[ASN][1000 genomes]
rs6573720	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573721	0.81[ASN][1000 genomes]
rs6573723	0.82[ASN][1000 genomes]
rs6573724	0.82[ASN][1000 genomes]
rs6573726	0.87[ASN][1000 genomes]
rs6573727	0.88[ASN][1000 genomes]
rs6573728	0.87[ASN][1000 genomes]
rs6573729	0.89[ASN][1000 genomes]
rs6573732	0.85[ASN][1000 genomes]
rs6573733	0.85[ASN][1000 genomes]
rs6573734	0.83[ASN][1000 genomes]
rs6573735	0.85[ASN][1000 genomes]
rs6573736	0.83[ASN][1000 genomes]
rs6573737	0.85[ASN][1000 genomes]
rs68178754	0.82[ASN][1000 genomes]
rs7142259	0.81[ASN][1000 genomes]
rs7142669	0.82[ASN][1000 genomes]
rs7143725	0.82[ASN][1000 genomes]
rs7144323	0.80[ASN][1000 genomes]
rs7145226	0.83[ASN][1000 genomes]
rs7145676	0.81[ASN][1000 genomes]
rs7145718	0.88[ASN][1000 genomes]
rs7145844	0.83[ASN][1000 genomes]
rs7145917	0.83[ASN][1000 genomes]
rs7146098	0.85[ASN][1000 genomes]
rs7146635	0.82[ASN][1000 genomes]
rs7147505	0.81[ASN][1000 genomes]
rs7147570	0.82[ASN][1000 genomes]
rs7147690	0.82[ASN][1000 genomes]
rs7147943	0.85[ASN][1000 genomes]
rs7148224	0.81[ASN][1000 genomes]
rs7148623	0.81[ASN][1000 genomes]
rs7148844	0.81[ASN][1000 genomes]
rs7148911	0.90[ASN][1000 genomes]
rs7149711	0.83[ASN][1000 genomes]
rs7150131	0.83[ASN][1000 genomes]
rs7152422	0.82[ASN][1000 genomes]
rs7153936	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7156081	0.83[ASN][1000 genomes]
rs7156655	0.85[ASN][1000 genomes]
rs7156852	0.89[ASN][1000 genomes]
rs7159473	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs7160476	0.90[ASN][1000 genomes]
rs723432	0.83[ASN][1000 genomes]
rs728647	0.83[ASN][1000 genomes]
rs8003434	0.90[ASN][1000 genomes]
rs8005352	0.85[AMR][1000 genomes]
rs8005740	0.81[ASN][1000 genomes]
rs8006067	0.90[ASN][1000 genomes]
rs8006552	0.80[ASN][1000 genomes]
rs8006669	0.85[ASN][1000 genomes]
rs8006995	0.80[ASN][1000 genomes]
rs8007064	0.80[ASN][1000 genomes]
rs8007930	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs8008369	0.81[ASN][1000 genomes]
rs8008773	0.85[ASN][1000 genomes]
rs8010920	0.81[ASN][1000 genomes]
rs8010952	0.81[ASN][1000 genomes]
rs8012158	0.81[ASN][1000 genomes]
rs8012315	0.81[ASN][1000 genomes]
rs8012660	0.88[ASN][1000 genomes]
rs8013943	0.82[ASN][1000 genomes]
rs8014841	0.87[ASN][1000 genomes]
rs8016186	0.88[ASN][1000 genomes]
rs8016213	0.80[ASN][1000 genomes]
rs8016725	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8018545	0.83[ASN][1000 genomes]
rs8018920	0.88[ASN][1000 genomes]
rs8020144	0.88[ASN][1000 genomes]
rs8020249	0.81[ASN][1000 genomes]
rs8022328	0.81[ASN][1000 genomes]
rs8022437	0.89[ASN][1000 genomes]
rs8022657	0.82[ASN][1000 genomes]
rs9323479	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs9323480	0.81[ASN][1000 genomes]
rs9323481	0.81[ASN][1000 genomes]
rs9323482	0.81[ASN][1000 genomes]
rs9323483	0.82[ASN][1000 genomes]
rs9323484	0.82[ASN][1000 genomes]
rs9323485	0.83[ASN][1000 genomes]
rs9323486	0.87[ASN][1000 genomes]
rs9323488	0.83[ASN][1000 genomes]
rs9323489	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9671368	0.85[ASN][1000 genomes]
rs9743488	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9783678	0.81[ASN][1000 genomes]
rs9989182	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv916205	chr14:67078849-67351687	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv1841470	chr14:67140676-67335425	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv902035	chr14:67140676-67336479	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv915868	chr14:67146757-67351687	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv902038	chr14:67146763-67298170	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv902042	chr14:67213769-67351019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv902044	chr14:67217091-67364763	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv534305	chr14:67217462-67351687	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv902045	chr14:67219817-67336479	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv902046	chr14:67219817-67364763	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv902048	chr14:67227911-67308900	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv902050	chr14:67228671-67324226	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	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
18	nsv902053	chr14:67233737-67324226	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv902054	chr14:67253035-67364763	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv902056	chr14:67261821-67308900	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv902057	chr14:67276310-67308900	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12323781	ATP6V1D	cis	Thyroid	GTEx
rs12323781	ATP6V1D	cis	lung	GTEx
rs12323781	EIF2S1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67282600-67309800	Weak transcription	Left Ventricle	heart
2	chr14:67291200-67297400	Weak transcription	Liver	Liver
3	chr14:67293600-67296000	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links