Variant report

Variant	rs4324728
Chromosome Location	chr5:41885577-41885578
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:41883917..41886978-chr5:41887352..41891327,3	K562	blood:
2	chr5:41885203..41888121-chr5:41889501..41892447,3	K562	blood:
3	chr5:41882384..41891851-chr5:41900562..41907560,15	K562	blood:
4	chr5:41881132..41883774-chr5:41884323..41886903,2	K562	blood:

Variant related genes	Relation type
ENSG00000205765	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10045473	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10051322	0.86[ASN][1000 genomes]
rs10059424	0.86[ASN][1000 genomes]
rs10060170	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10062703	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10064298	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10064380	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10069638	0.86[ASN][1000 genomes]
rs1006996	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10070201	0.86[ASN][1000 genomes]
rs10075064	0.90[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10077481	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10472357	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10941557	0.91[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1118104	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11739257	0.80[ASN][1000 genomes]
rs11740524	0.80[ASN][1000 genomes]
rs11744279	0.80[ASN][1000 genomes]
rs11744516	0.94[ASN][1000 genomes]
rs11744623	0.80[ASN][1000 genomes]
rs11745373	0.91[CEU][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11747921	0.80[ASN][1000 genomes]
rs1175227	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13357951	0.86[ASN][1000 genomes]
rs13360001	0.91[CEU][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1355089	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1508816	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1533014	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16871972	0.80[ASN][1000 genomes]
rs17739462	0.80[ASN][1000 genomes]
rs17847285	0.80[ASN][1000 genomes]
rs1876654	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2113053	0.86[ASN][1000 genomes]
rs2231910	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2231917	0.86[ASN][1000 genomes]
rs2329815	0.80[ASN][1000 genomes]
rs277406	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs277407	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs277414	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs277416	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs316724	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs316751	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs316760	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34339137	0.80[ASN][1000 genomes]
rs34663371	0.80[ASN][1000 genomes]
rs35077044	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs35154057	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35613904	0.80[ASN][1000 genomes]
rs4050986	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4289604	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4957171	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4957173	0.86[ASN][1000 genomes]
rs4957174	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4957175	0.86[ASN][1000 genomes]
rs4957176	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4957177	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4957178	0.86[ASN][1000 genomes]
rs4957180	0.86[ASN][1000 genomes]
rs4957422	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4957423	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4957424	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4957428	0.80[ASN][1000 genomes]
rs4957429	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4957430	0.80[ASN][1000 genomes]
rs4957431	0.86[ASN][1000 genomes]
rs4957432	0.86[ASN][1000 genomes]
rs4957433	0.86[ASN][1000 genomes]
rs4957435	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4957436	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4957437	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4957438	0.86[ASN][1000 genomes]
rs4957439	0.86[ASN][1000 genomes]
rs622413	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs624097	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6451581	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6451582	1.00[CEU][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66820325	0.80[ASN][1000 genomes]
rs67114999	0.80[ASN][1000 genomes]
rs676067	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6881873	0.80[ASN][1000 genomes]
rs72746983	0.86[ASN][1000 genomes]
rs72746996	0.86[ASN][1000 genomes]
rs7712911	0.80[ASN][1000 genomes]
rs7728482	1.00[CEU][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7729014	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7733096	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9292825	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
3	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv4811	chr5:41844522-41887353	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
6	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 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	chr5:41885200-41887800	Weak transcription	K562	blood
2	chr5:41885400-41885600	Enhancers	Pancreatic Islets	Pancreatic Islet

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