Variant report

Variant	rs1175227
Chromosome Location	chr5:41890610-41890611
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:41889147..41892040-chr5:41892330..41895312,4	K562	blood:
2	chr5:41885203..41888121-chr5:41889501..41892447,3	K562	blood:
3	chr5:41883917..41886978-chr5:41887352..41891327,3	K562	blood:
4	chr5:41888696..41891636-chr5:41903248..41905861,3	MCF-7	breast:
5	chr5:41882384..41891851-chr5:41900562..41907560,15	K562	blood:
6	chr5:41869639..41871657-chr5:41890158..41893094,3	K562	blood:

Variant related genes	Relation type
ENSG00000083720	Chromatin interaction
ENSG00000248668	Chromatin interaction
ENSG00000240281	Chromatin interaction
ENSG00000205765	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10045473	1.00[ASN][1000 genomes]
rs10051322	1.00[ASN][1000 genomes]
rs10059424	1.00[ASN][1000 genomes]
rs10060170	1.00[ASN][1000 genomes]
rs10062703	1.00[ASN][1000 genomes]
rs10064298	1.00[ASN][1000 genomes]
rs10064380	1.00[ASN][1000 genomes]
rs10069638	1.00[ASN][1000 genomes]
rs1006996	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070201	1.00[ASN][1000 genomes]
rs10075064	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10077481	1.00[ASN][1000 genomes]
rs10472357	1.00[ASN][1000 genomes]
rs10941557	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1118104	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739257	0.93[ASN][1000 genomes]
rs11740524	0.93[ASN][1000 genomes]
rs11744279	0.93[ASN][1000 genomes]
rs11744516	0.81[ASN][1000 genomes]
rs11744623	0.93[ASN][1000 genomes]
rs11745373	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11747921	0.93[ASN][1000 genomes]
rs13357951	1.00[ASN][1000 genomes]
rs13360001	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1355089	0.93[ASN][1000 genomes]
rs1508816	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1533014	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1567323	0.81[ASN][1000 genomes]
rs16871972	0.93[ASN][1000 genomes]
rs17739462	0.93[ASN][1000 genomes]
rs17847285	0.93[ASN][1000 genomes]
rs1876654	1.00[ASN][1000 genomes]
rs2113053	1.00[ASN][1000 genomes]
rs2231910	1.00[ASN][1000 genomes]
rs2231917	1.00[ASN][1000 genomes]
rs2329815	0.93[ASN][1000 genomes]
rs277406	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs277407	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs277414	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs277416	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316724	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs316751	0.80[EUR][1000 genomes]
rs316760	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34339137	0.93[ASN][1000 genomes]
rs34663371	0.93[ASN][1000 genomes]
rs35077044	0.93[ASN][1000 genomes]
rs35154057	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35252930	0.81[ASN][1000 genomes]
rs35613904	0.93[ASN][1000 genomes]
rs4050986	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4289604	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324728	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4957171	1.00[ASN][1000 genomes]
rs4957173	1.00[ASN][1000 genomes]
rs4957174	1.00[ASN][1000 genomes]
rs4957175	1.00[ASN][1000 genomes]
rs4957176	1.00[ASN][1000 genomes]
rs4957177	1.00[ASN][1000 genomes]
rs4957178	1.00[ASN][1000 genomes]
rs4957180	1.00[ASN][1000 genomes]
rs4957422	0.93[ASN][1000 genomes]
rs4957423	0.93[ASN][1000 genomes]
rs4957424	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4957428	0.93[ASN][1000 genomes]
rs4957429	0.93[ASN][1000 genomes]
rs4957430	0.93[ASN][1000 genomes]
rs4957431	1.00[ASN][1000 genomes]
rs4957432	1.00[ASN][1000 genomes]
rs4957433	1.00[ASN][1000 genomes]
rs4957435	1.00[ASN][1000 genomes]
rs4957436	1.00[ASN][1000 genomes]
rs4957437	1.00[ASN][1000 genomes]
rs4957438	1.00[ASN][1000 genomes]
rs4957439	1.00[ASN][1000 genomes]
rs622413	0.85[EUR][1000 genomes]
rs624097	0.85[EUR][1000 genomes]
rs6451581	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6451582	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66820325	0.93[ASN][1000 genomes]
rs67114999	0.93[ASN][1000 genomes]
rs676067	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881873	0.93[ASN][1000 genomes]
rs72746983	1.00[ASN][1000 genomes]
rs72746996	1.00[ASN][1000 genomes]
rs7712911	0.93[ASN][1000 genomes]
rs7728482	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729014	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7733096	0.93[ASN][1000 genomes]
rs9292825	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[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	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	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
5	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	chr5:41889800-41891600	Enhancers	K562	blood
2	chr5:41890400-41891200	Weak transcription	Stomach Mucosa	stomach

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