Variant report

Variant	rs253544
Chromosome Location	chr5:164631168-164631169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10067676	0.87[ASN][1000 genomes]
rs10068870	0.82[ASN][1000 genomes]
rs10076780	0.87[ASN][1000 genomes]
rs10076821	0.87[ASN][1000 genomes]
rs11135358	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11747437	0.87[ASN][1000 genomes]
rs11747503	0.87[ASN][1000 genomes]
rs11748440	0.86[ASN][1000 genomes]
rs11748996	0.87[ASN][1000 genomes]
rs11749187	0.87[ASN][1000 genomes]
rs12519113	0.85[EUR][1000 genomes]
rs12519127	0.85[EUR][1000 genomes]
rs13159284	0.82[ASN][1000 genomes]
rs13178865	0.82[ASN][1000 genomes]
rs13181477	0.82[ASN][1000 genomes]
rs13186057	0.87[ASN][1000 genomes]
rs1469062	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17333449	0.81[ASN][1000 genomes]
rs17391889	0.87[ASN][1000 genomes]
rs1833718	0.82[ASN][1000 genomes]
rs1895292	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2052513	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2052514	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs253537	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3095951	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35203349	0.86[ASN][1000 genomes]
rs4291037	0.85[ASN][1000 genomes]
rs4868753	0.87[ASN][1000 genomes]
rs4868918	0.86[ASN][1000 genomes]
rs4868919	0.86[ASN][1000 genomes]
rs4868920	0.86[ASN][1000 genomes]
rs62385686	0.87[ASN][1000 genomes]
rs6896863	0.84[ASN][1000 genomes]
rs7715290	0.87[ASN][1000 genomes]
rs7720784	0.87[ASN][1000 genomes]
rs7731911	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528624	chr5:164319435-164701201	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1033866	chr5:164419608-164677758	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1027138	chr5:164563093-164852655	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv537937	chr5:164563093-164852655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1028006	chr5:164563293-164852516	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv537938	chr5:164563293-164852516	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1027103	chr5:164606534-164694498	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr5:164628600-164633400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:164630000-164635800	Weak transcription	Fetal Heart	heart

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