Variant report

Variant	rs1567323
Chromosome Location	chr5:41880202-41880203
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:41877897..41883547-chr5:41886069..41890189,5	K562	blood:
2	chr5:41870798..41872531-chr5:41879112..41881533,2	K562	blood:
3	chr5:41879598..41881638-chr5:41943324..41944878,2	K562	blood:
4	chr5:41874942..41877318-chr5:41878701..41882367,4	K562	blood:
5	chr5:41875191..41876862-chr5:41878614..41881383,3	K562	blood:
6	chr5:41874167..41876175-chr5:41878438..41881219,2	MCF-7	breast:

Extended variants
information (count: 193 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:187)

rs_ID	r²[population]
rs10035434	1.00[EUR][1000 genomes]
rs10040757	1.00[EUR][1000 genomes]
rs10043326	1.00[EUR][1000 genomes]
rs10043371	1.00[EUR][1000 genomes]
rs10045473	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10051322	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10052226	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10053522	1.00[EUR][1000 genomes]
rs10054130	1.00[EUR][1000 genomes]
rs10057546	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10057587	1.00[EUR][1000 genomes]
rs10057645	1.00[EUR][1000 genomes]
rs10059424	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10060170	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10062703	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10064298	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10064380	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10065016	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10065335	1.00[EUR][1000 genomes]
rs10069638	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1006996	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10070201	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10075064	1.00[JPT][hapmap]
rs10075429	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10076689	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10077481	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10078011	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10079651	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1027348	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs10472357	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10472359	0.87[EUR][1000 genomes]
rs10473252	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10473255	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10941557	1.00[JPT][hapmap]
rs1118104	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11738956	0.95[EUR][1000 genomes]
rs11739257	1.00[JPT][hapmap]
rs11741731	1.00[CEU][hapmap]
rs11744279	1.00[JPT][hapmap]
rs11744826	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11745373	1.00[JPT][hapmap]
rs11745460	1.00[EUR][1000 genomes]
rs11745530	1.00[EUR][1000 genomes]
rs11746530	1.00[EUR][1000 genomes]
rs11747648	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11747921	1.00[JPT][hapmap]
rs11747941	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11748575	1.00[CEU][hapmap]
rs11748578	1.00[CEU][hapmap]
rs11748933	1.00[EUR][1000 genomes]
rs1175227	0.81[ASN][1000 genomes]
rs13353950	1.00[CEU][hapmap]
rs13355194	1.00[EUR][1000 genomes]
rs13357951	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13357980	1.00[CEU][hapmap]
rs13358459	1.00[EUR][1000 genomes]
rs13360001	1.00[JPT][hapmap]
rs13436920	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1355089	1.00[JPT][hapmap]
rs1423242	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1423243	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1508816	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs167583	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16872052	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs170299	0.87[EUR][1000 genomes]
rs17339188	1.00[EUR][1000 genomes]
rs1876654	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs188818	0.87[EUR][1000 genomes]
rs2113053	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2231910	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2231917	0.81[ASN][1000 genomes]
rs277406	0.81[ASN][1000 genomes]
rs277407	0.81[ASN][1000 genomes]
rs277414	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs277416	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs28647448	1.00[EUR][1000 genomes]
rs316710	0.83[EUR][1000 genomes]
rs316711	0.87[EUR][1000 genomes]
rs316712	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs316713	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs316714	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs316715	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs316729	0.87[EUR][1000 genomes]
rs316731	0.87[EUR][1000 genomes]
rs316732	0.87[EUR][1000 genomes]
rs316733	0.87[EUR][1000 genomes]
rs316734	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs316746	0.87[EUR][1000 genomes]
rs316747	0.87[EUR][1000 genomes]
rs316748	0.87[EUR][1000 genomes]
rs316749	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs316750	0.87[EUR][1000 genomes]
rs316752	0.87[EUR][1000 genomes]
rs316754	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs316756	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs316757	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs316758	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34493032	1.00[EUR][1000 genomes]
rs35077044	1.00[JPT][hapmap]
rs35890705	1.00[EUR][1000 genomes]
rs4289604	0.81[ASN][1000 genomes]
rs4324728	1.00[JPT][hapmap]
rs4957171	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4957173	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4957174	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4957175	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4957176	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4957177	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4957178	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4957180	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4957182	0.85[AMR][1000 genomes]
rs4957422	1.00[JPT][hapmap]
rs4957423	1.00[JPT][hapmap]
rs4957429	1.00[JPT][hapmap]
rs4957431	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4957432	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4957433	0.81[ASN][1000 genomes]
rs4957434	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4957435	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4957436	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4957437	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4957438	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4957439	0.81[ASN][1000 genomes]
rs57944767	0.90[EUR][1000 genomes]
rs582920	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs583090	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs584067	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs590851	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs591384	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs602274	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs605064	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs607620	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs609410	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61058110	0.95[EUR][1000 genomes]
rs621944	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs626907	1.00[JPT][hapmap]
rs627476	0.87[EUR][1000 genomes]
rs641270	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6451582	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs654400	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67152480	0.95[EUR][1000 genomes]
rs675785	0.87[EUR][1000 genomes]
rs675812	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs676067	0.81[ASN][1000 genomes]
rs678061	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6889217	1.00[JPT][hapmap]
rs72746926	0.95[EUR][1000 genomes]
rs72746928	0.95[EUR][1000 genomes]
rs72746930	0.95[EUR][1000 genomes]
rs72746932	0.95[EUR][1000 genomes]
rs72746933	0.93[EUR][1000 genomes]
rs72746952	0.95[EUR][1000 genomes]
rs72746962	0.90[EUR][1000 genomes]
rs72746966	0.95[EUR][1000 genomes]
rs72746968	0.95[EUR][1000 genomes]
rs72746975	0.95[EUR][1000 genomes]
rs72746983	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72746985	1.00[EUR][1000 genomes]
rs72746995	1.00[EUR][1000 genomes]
rs72746996	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72746997	0.95[EUR][1000 genomes]
rs72746999	1.00[EUR][1000 genomes]
rs72747000	1.00[EUR][1000 genomes]
rs72747001	1.00[EUR][1000 genomes]
rs72747002	1.00[EUR][1000 genomes]
rs72748607	1.00[EUR][1000 genomes]
rs72748608	1.00[EUR][1000 genomes]
rs72748609	1.00[EUR][1000 genomes]
rs72748611	1.00[EUR][1000 genomes]
rs72748613	1.00[EUR][1000 genomes]
rs72748614	1.00[EUR][1000 genomes]
rs72748616	1.00[EUR][1000 genomes]
rs72748619	1.00[EUR][1000 genomes]
rs72748620	1.00[EUR][1000 genomes]
rs72748623	0.83[EUR][1000 genomes]
rs72761834	0.87[EUR][1000 genomes]
rs7341062	1.00[EUR][1000 genomes]
rs7706652	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7712106	1.00[EUR][1000 genomes]
rs7712911	1.00[JPT][hapmap]
rs7723992	1.00[EUR][1000 genomes]
rs7728482	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9292826	0.95[EUR][1000 genomes]
rs9292828	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs9292832	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9885033	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9885117	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1567323	OXCT1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41879400-41880600	Weak transcription	K562	blood

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