Variant report

Variant	rs2219970
Chromosome Location	chr3:99118313-99118314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 168 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:163)

rs_ID	r²[population]
rs1021081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1021082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031966	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1031967	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11711371	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11922930	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12487192	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12490465	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12493841	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493876	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13325971	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13326810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383845	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1383852	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1383855	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1383856	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383858	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1383859	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1406542	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1406543	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1481522	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1481530	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1481541	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1481542	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1481543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481545	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1481546	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1481549	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1580367	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1600781	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1812813	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1871790	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1871794	0.81[AMR][1000 genomes]
rs2086520	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2101108	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2128021	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2170384	0.88[AMR][1000 genomes]
rs2170385	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2170386	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2219969	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2245932	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2245940	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2341817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2448967	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2448969	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2464138	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2464139	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2464146	0.91[EUR][1000 genomes]
rs2464148	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2470689	0.88[EUR][1000 genomes]
rs2623319	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623320	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623321	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623323	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623324	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623325	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623326	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623327	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623328	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623329	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623330	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623331	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623332	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623333	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623334	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2623336	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623338	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623339	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623340	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623342	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623344	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623346	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623347	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623348	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623349	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623350	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623351	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623354	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623355	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623356	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623357	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2623358	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2623363	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2623364	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2623371	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2623372	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2623373	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2623375	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2700590	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700592	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700593	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700594	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700595	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700601	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2700602	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2700603	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2700606	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700607	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2700608	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700609	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700610	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700611	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2700615	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700621	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2700622	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2700623	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700624	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700636	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700637	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700639	0.84[EUR][1000 genomes]
rs2700640	0.84[EUR][1000 genomes]
rs2700641	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700642	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700644	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2700646	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2700649	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2700671	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2700672	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2929433	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2929434	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2929435	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2929436	0.85[AMR][1000 genomes]
rs2929437	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2929440	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2929441	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2929442	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2929444	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2951490	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2951491	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2951492	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2960091	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2960092	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2960093	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4132131	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4324495	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4365660	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4530567	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6440580	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778214	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6801835	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6807371	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73134477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134478	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134486	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138305	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73141805	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73141807	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7429158	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs744189	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7625600	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7631745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs767808	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs969987	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9756004	0.81[AMR][1000 genomes]
rs980842	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9813332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833036	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9835548	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9841436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9853583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9874386	0.88[AMR][1000 genomes]
rs9990265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530026	chr3:98837320-99340537	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv877216	chr3:99065296-99161022	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2219970	DCBLD2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99117000-99118400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:99117200-99118400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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