Variant report

Variant	rs12649323
Chromosome Location	chr4:93589814-93589815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs1026754	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11724455	0.84[EUR][1000 genomes]
rs11725098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11734482	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11734654	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11934085	0.80[EUR][1000 genomes]
rs12640345	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12640641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12641522	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12642232	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12643408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643613	0.95[EUR][1000 genomes]
rs12644834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12644879	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12645042	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12646095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12646114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12646162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12646471	0.95[EUR][1000 genomes]
rs12647044	0.95[EUR][1000 genomes]
rs12647704	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12648061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12648369	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12651529	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17019701	0.92[EUR][1000 genomes]
rs17019712	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17019732	0.95[ASN][1000 genomes]
rs34612115	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35806279	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4142874	0.80[EUR][1000 genomes]
rs62307877	0.92[EUR][1000 genomes]
rs62307878	0.95[EUR][1000 genomes]
rs62307879	0.95[EUR][1000 genomes]
rs62307880	0.95[EUR][1000 genomes]
rs62307881	0.95[EUR][1000 genomes]
rs62307882	0.95[EUR][1000 genomes]
rs62307883	0.95[EUR][1000 genomes]
rs62307884	0.95[EUR][1000 genomes]
rs62307885	0.95[EUR][1000 genomes]
rs62307886	0.95[EUR][1000 genomes]
rs62307887	0.95[EUR][1000 genomes]
rs62307888	0.95[EUR][1000 genomes]
rs62307889	0.95[EUR][1000 genomes]
rs62307890	0.95[EUR][1000 genomes]
rs62307891	0.95[EUR][1000 genomes]
rs62307892	0.95[EUR][1000 genomes]
rs62307893	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62307894	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62307895	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62307896	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62307897	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62307898	0.95[EUR][1000 genomes]
rs62307899	0.95[EUR][1000 genomes]
rs62307900	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62307901	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62307917	0.95[EUR][1000 genomes]
rs62307948	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62307949	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62307950	0.95[EUR][1000 genomes]
rs62307952	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62307953	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62307954	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62307955	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62307956	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62307957	0.95[EUR][1000 genomes]
rs62307958	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62307959	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62309160	0.95[EUR][1000 genomes]
rs62309161	0.95[EUR][1000 genomes]
rs62309162	0.95[EUR][1000 genomes]
rs62309164	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62309165	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62309166	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62309167	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62309168	0.95[EUR][1000 genomes]
rs62309169	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62309170	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62309171	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62309172	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62309173	0.95[EUR][1000 genomes]
rs62309174	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62309175	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62309176	0.95[EUR][1000 genomes]
rs62309177	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62309179	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62309180	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62309196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62309197	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62309198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309199	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62309201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309205	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309207	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62309208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309210	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62309211	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62309212	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309213	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62309223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62309224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62309225	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62309227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62309228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62309229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62309230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62309232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62309233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62309234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62309235	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62310137	0.80[EUR][1000 genomes]
rs62310139	0.84[EUR][1000 genomes]
rs62310141	0.84[EUR][1000 genomes]
rs62310143	0.87[EUR][1000 genomes]
rs62310144	0.87[EUR][1000 genomes]
rs62310145	0.87[EUR][1000 genomes]
rs62310146	0.89[EUR][1000 genomes]
rs62310147	0.89[EUR][1000 genomes]
rs62310148	0.89[EUR][1000 genomes]
rs62310149	0.92[EUR][1000 genomes]
rs62310170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62310171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310178	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62310179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310181	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310182	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62310183	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62310184	0.82[EUR][1000 genomes]
rs6532380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6853303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6853672	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6853981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854329	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7670866	0.92[EUR][1000 genomes]
rs7670984	0.92[EUR][1000 genomes]
rs7675247	0.95[EUR][1000 genomes]
rs7675621	0.95[EUR][1000 genomes]
rs7683918	0.92[EUR][1000 genomes]
rs7687076	0.89[EUR][1000 genomes]
rs7692067	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948712	chr4:93007985-93740409	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1005500	chr4:93359923-93590452	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv537184	chr4:93359923-93590452	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv879605	chr4:93376231-93740409	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1014431	chr4:93464326-93618241	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv537185	chr4:93464326-93618241	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv879608	chr4:93480717-93612903	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv879609	chr4:93489287-93596167	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv830008	chr4:93510957-93685935	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv879610	chr4:93542768-93646501	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv869890	chr4:93551923-93599587	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv999973	chr4:93553282-93622621	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv2763843	chr4:93553294-93728747	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1008889	chr4:93555552-93622621	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1014347	chr4:93555552-93637367	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1003350	chr4:93566813-93821353	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1013341	chr4:93588723-93693087	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93579800-93590600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:93587800-93591800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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