Variant report

Variant	rs1583314
Chromosome Location	chr12:87400421-87400422
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10777014	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10777016	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10777017	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10777020	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10858541	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10858557	0.91[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs10858560	0.80[AFR][1000 genomes]
rs11104240	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11104255	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11104276	0.83[ASN][1000 genomes]
rs11104290	0.85[AFR][1000 genomes]
rs11104291	0.89[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11104292	0.89[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11104293	0.89[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11104294	0.89[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12227528	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12231093	0.89[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12308273	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12310504	0.85[AFR][1000 genomes]
rs12311381	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12422524	0.87[ASN][1000 genomes]
rs12813826	0.85[ASN][1000 genomes]
rs1433331	0.83[ASN][1000 genomes]
rs1433332	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1583313	0.91[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs17314381	0.80[ASN][1000 genomes]
rs1897631	0.80[ASN][1000 genomes]
rs1897633	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1922753	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053090	0.81[ASN][1000 genomes]
rs2053091	0.80[ASN][1000 genomes]
rs2053092	0.90[AFR][1000 genomes]
rs2117016	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2117017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406735	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406736	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2897503	0.88[ASN][1000 genomes]
rs2897509	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4842543	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs67092872	0.84[ASN][1000 genomes]
rs7134010	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7487188	0.83[ASN][1000 genomes]
rs7964342	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7969732	0.83[ASN][1000 genomes]
rs7971422	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7974893	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754127	chr12:86723232-87576932	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916862	chr12:86837694-87718558	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899397	chr12:86863041-87636831	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv868879	chr12:87207243-87578373	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv559693	chr12:87216285-87447757	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1049688	chr12:87219949-87412043	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1052693	chr12:87219949-87573582	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv899403	chr12:87225050-87528020	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2753551	chr12:87226774-87473947	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv899405	chr12:87233995-87430209	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv899406	chr12:87233995-87528020	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv428596	chr12:87244257-87422246	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv899407	chr12:87254691-87506910	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	esv2752961	chr12:87255339-87465826	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	esv2754599	chr12:87255339-87491053	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	esv2755612	chr12:87260646-87460465	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	esv2755080	chr12:87260646-87465826	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	esv2754967	chr12:87281456-87491053	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	nsv519543	chr12:87307329-87528020	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	nsv517718	chr12:87319908-87430209	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	nsv899408	chr12:87319908-87490752	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
22	nsv899409	chr12:87319908-87506910	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
23	nsv899410	chr12:87319908-87528020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
24	nsv1048789	chr12:87321296-87413371	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
25	nsv899411	chr12:87339195-87459912	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
26	nsv899412	chr12:87346094-87506910	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv1044248	chr12:87357657-87444309	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv1043132	chr12:87363498-87428530	Enhancers ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv1044646	chr12:87369654-87426259	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv1049612	chr12:87369654-87430209	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv1053777	chr12:87369654-87432340	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv1052738	chr12:87369654-87440463	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv899413	chr12:87378980-87490752	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv899414	chr12:87378980-87506910	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv806	chr12:87382310-87427506	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87395000-87401400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:87398800-87424000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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