Variant report

Variant	rs223080
Chromosome Location	chr5:41365836-41365837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10044440	0.83[ASN][1000 genomes]
rs10053633	0.87[ASN][1000 genomes]
rs10055126	0.87[ASN][1000 genomes]
rs10068649	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10071445	0.85[ASN][1000 genomes]
rs10078334	1.00[CHB][hapmap];0.87[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs1037690	1.00[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs10462017	0.82[CEU][hapmap];0.82[AMR][1000 genomes]
rs10512774	0.82[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs10512775	0.82[CEU][hapmap]
rs10805659	1.00[CHB][hapmap];0.84[CHD][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs11737958	0.82[CEU][hapmap]
rs11740787	0.82[CEU][hapmap]
rs11744499	0.82[CEU][hapmap]
rs11747859	0.82[CEU][hapmap]
rs13166710	0.93[ASN][1000 genomes]
rs1350299	1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs1373639	0.82[CEU][hapmap]
rs1380996	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs1460953	0.82[CEU][hapmap]
rs1460955	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs160966	0.93[ASN][1000 genomes]
rs161086	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs161087	0.97[ASN][1000 genomes]
rs1645060	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs167627	0.85[ASN][1000 genomes]
rs167628	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16871219	0.82[CEU][hapmap]
rs16871220	0.82[CEU][hapmap]
rs16871222	0.82[CEU][hapmap];0.81[MEX][hapmap];0.91[MKK][hapmap]
rs16871258	0.82[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs16871269	0.82[CEU][hapmap];0.81[MEX][hapmap]
rs1904178	0.82[CEU][hapmap];0.81[MEX][hapmap]
rs2054445	0.82[CEU][hapmap]
rs2161542	0.82[CEU][hapmap]
rs2329602	0.82[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs2329604	0.82[CEU][hapmap]
rs2329671	0.82[CEU][hapmap];0.81[MEX][hapmap]
rs2860000	0.82[CEU][hapmap]
rs2925729	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2925731	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs318836	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs318837	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs318838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs318839	0.97[ASN][1000 genomes]
rs318840	0.93[ASN][1000 genomes]
rs318841	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs318842	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs318843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs318844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs318845	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs318846	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs318847	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs318849	0.90[ASN][1000 genomes]
rs319013	1.00[CHB][hapmap];0.87[CHD][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs319014	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs319015	0.89[ASN][1000 genomes]
rs320622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs320623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4051076	0.87[ASN][1000 genomes]
rs4380706	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4380707	1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs4383755	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4403222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4438921	0.87[ASN][1000 genomes]
rs4557464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4559042	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4957153	0.82[CEU][hapmap]
rs4957391	0.82[AMR][1000 genomes]
rs545358	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6859578	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72755968	0.82[AMR][1000 genomes]
rs72755970	0.82[AMR][1000 genomes]
rs72755983	0.82[AMR][1000 genomes]
rs72755984	0.82[AMR][1000 genomes]
rs730354	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[ASN][1000 genomes]
rs765176	0.82[CEU][hapmap]
rs765177	0.82[CEU][hapmap];0.81[MEX][hapmap];0.91[MKK][hapmap]
rs7700406	1.00[CHB][hapmap]
rs7701760	0.82[CEU][hapmap]
rs7703589	0.82[CEU][hapmap]
rs7704046	0.82[CEU][hapmap];0.81[MEX][hapmap];0.91[MKK][hapmap]
rs7713441	0.94[ASN][1000 genomes]
rs7718012	0.87[ASN][1000 genomes]
rs7722338	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7723649	0.82[CEU][hapmap];0.82[AMR][1000 genomes]
rs7727658	0.82[CEU][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs7729454	0.82[CEU][hapmap];0.81[MEX][hapmap];0.91[MKK][hapmap]
rs7735604	0.82[CEU][hapmap]
rs921946	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs9292806	1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs9654393	1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427717	chr5:41201377-41369202	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830269	chr5:41209113-41393536	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1851387	chr5:41336050-41423631	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1024631	chr5:41341979-41427953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41350200-41370000	Weak transcription	Ovary	ovary
2	chr5:41357400-41371400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:41361400-41370800	Weak transcription	Right Ventricle	heart
4	chr5:41362800-41366800	Enhancers	Fetal Heart	heart
5	chr5:41364400-41366600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:41364600-41371600	Weak transcription	Left Ventricle	heart
7	chr5:41364800-41368600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:41365200-41368200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:41365800-41366200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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