Variant report

Variant	rs3770388
Chromosome Location	chr2:53094042-53094043
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1011229	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10496009	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12470339	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12471375	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12477060	0.95[ASN][1000 genomes]
rs1376565	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1377958	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1454403	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1549748	1.00[EUR][1000 genomes]
rs17043593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17043603	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17043607	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17043719	0.96[ASN][1000 genomes]
rs17043720	0.94[ASN][1000 genomes]
rs17043721	0.96[ASN][1000 genomes]
rs17043766	1.00[EUR][1000 genomes]
rs17043777	1.00[JPT][hapmap]
rs17043785	0.92[JPT][hapmap]
rs17043814	1.00[EUR][1000 genomes]
rs17043816	1.00[EUR][1000 genomes]
rs1868904	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2839750	1.00[EUR][1000 genomes]
rs34669934	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs41403348	0.92[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.91[ASN][1000 genomes]
rs41523148	0.92[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4524156	0.92[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.91[ASN][1000 genomes]
rs4671948	0.85[EUR][1000 genomes]
rs4672031	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56066502	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56122338	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56361754	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57955203	0.85[EUR][1000 genomes]
rs58123872	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59711835	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60553623	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73933669	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7575309	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7577236	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7602150	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs965441	0.92[JPT][hapmap]
rs965442	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998380	chr2:52891706-53222155	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	esv2763631	chr2:52910862-53169629	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006244	chr2:52958322-53169617	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1005813	chr2:52959769-53114865	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1010978	chr2:52959769-53249951	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1014068	chr2:52960353-53169617	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1010237	chr2:53072736-53116413	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
9	nsv581978	chr2:53091691-53227749	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53090400-53096200	Weak transcription	NHDF-Ad	bronchial
2	chr2:53091600-53095600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:53093400-53094400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:53093400-53095000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:53093600-53094200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:53093600-53095000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:53093600-53095200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:53094000-53094400	Enhancers	Fetal Lung	lung

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