Variant report

Variant	rs12427493
Chromosome Location	chr13:64438087-64438088
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1039005	1.00[CHB][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap]
rs10507702	1.00[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs12428552	1.00[ASN][1000 genomes]
rs12428562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428922	0.81[EUR][1000 genomes]
rs12429666	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1591483	1.00[ASN][1000 genomes]
rs17073496	0.81[EUR][1000 genomes]
rs17073668	0.81[EUR][1000 genomes]
rs17074073	0.81[EUR][1000 genomes]
rs1809671	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1809672	0.91[ASN][1000 genomes]
rs1809673	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1809674	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1809675	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1826133	0.86[ASN][1000 genomes]
rs183919	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1932376	1.00[ASN][1000 genomes]
rs2050477	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2050479	0.81[EUR][1000 genomes]
rs2171866	0.81[EUR][1000 genomes]
rs2635991	0.83[ASN][1000 genomes]
rs275913	1.00[ASN][1000 genomes]
rs275932	0.91[ASN][1000 genomes]
rs275942	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2807121	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3866531	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs41382744	0.81[EUR][1000 genomes]
rs4883724	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4883725	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4884521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4884529	0.81[EUR][1000 genomes]
rs498958	0.91[ASN][1000 genomes]
rs506695	1.00[ASN][1000 genomes]
rs536914	0.91[ASN][1000 genomes]
rs556065	1.00[ASN][1000 genomes]
rs563389	1.00[ASN][1000 genomes]
rs56890343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589325	1.00[ASN][1000 genomes]
rs590719	1.00[ASN][1000 genomes]
rs7322811	0.81[EUR][1000 genomes]
rs7335738	0.91[ASN][1000 genomes]
rs73501843	0.81[EUR][1000 genomes]
rs74087239	1.00[ASN][1000 genomes]
rs74087241	0.97[ASN][1000 genomes]
rs7998209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs824761	0.81[ASN][1000 genomes]
rs9564108	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9564124	0.88[ASN][1000 genomes]
rs9571054	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9571073	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9571074	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9571078	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9943950	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042265	chr13:63945130-64471230	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2756457	chr13:64244499-64497199	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv900323	chr13:64290980-64513203	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv900331	chr13:64346536-64450375	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv832633	chr13:64385305-64521487	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1046038	chr13:64405310-64500692	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv900332	chr13:64411616-64856866	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv2829984	chr13:64412839-64517258	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv561964	chr13:64412839-64967458	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1044946	chr13:64419179-64937470	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1052183	chr13:64424127-64475455	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1038291	chr13:64424127-64937470	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1047229	chr13:64424127-64962138	Enhancers Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1037078	chr13:64424251-64937470	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv1036164	chr13:64425528-64933932	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv976242	chr13:64428696-64441645	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv900333	chr13:64432922-64546757	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv900334	chr13:64432922-64591709	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv516171	chr13:64432922-64936243	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv455914	chr13:64432922-65368490	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv561965	chr13:64432922-65368490	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr13:64432400-64438600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:64433200-64438800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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