Variant report

Variant	rs72746983
Chromosome Location	chr5:41872710-41872711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:41871626..41873159-chr5:41881683..41883592,2	K562	blood:
2	chr5:41865404..41878163-chr5:41900217..41908471,28	K562	blood:
3	chr5:41870733..41872720-chr5:41882349..41885044,2	MCF-7	breast:
4	chr5:41866693..41874585-chr5:41920680..41930326,14	K562	blood:

Variant related genes	Relation type
ENSG00000151876	Chromatin interaction
ENSG00000205765	Chromatin interaction

Extended variants
information (count: 207 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:202)

rs_ID	r²[population]
rs10035434	0.95[EUR][1000 genomes]
rs10040757	0.95[EUR][1000 genomes]
rs10043326	0.95[EUR][1000 genomes]
rs10043371	0.95[EUR][1000 genomes]
rs10045473	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10051322	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10052226	0.95[EUR][1000 genomes]
rs10053522	0.95[EUR][1000 genomes]
rs10054130	0.95[EUR][1000 genomes]
rs10057546	0.95[EUR][1000 genomes]
rs10057587	0.95[EUR][1000 genomes]
rs10057645	0.95[EUR][1000 genomes]
rs10059424	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060170	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062703	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064298	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064380	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065016	0.95[EUR][1000 genomes]
rs10065335	0.95[EUR][1000 genomes]
rs10069638	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1006996	1.00[ASN][1000 genomes]
rs10070201	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10075064	0.93[ASN][1000 genomes]
rs10075429	0.95[EUR][1000 genomes]
rs10076689	0.95[EUR][1000 genomes]
rs10077481	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078011	0.90[EUR][1000 genomes]
rs10079651	0.95[EUR][1000 genomes]
rs1027348	0.90[EUR][1000 genomes]
rs10472357	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10472359	0.83[EUR][1000 genomes]
rs10473252	0.95[EUR][1000 genomes]
rs10473255	0.95[EUR][1000 genomes]
rs10941557	0.93[ASN][1000 genomes]
rs1118104	1.00[ASN][1000 genomes]
rs11738956	0.90[EUR][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]
rs11744826	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11745373	0.93[ASN][1000 genomes]
rs11745460	0.95[EUR][1000 genomes]
rs11745530	0.95[EUR][1000 genomes]
rs11746530	0.95[EUR][1000 genomes]
rs11747648	0.95[EUR][1000 genomes]
rs11747921	0.93[ASN][1000 genomes]
rs11747941	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11748933	0.95[EUR][1000 genomes]
rs1175227	1.00[ASN][1000 genomes]
rs13355194	0.95[EUR][1000 genomes]
rs13357951	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13358459	0.95[EUR][1000 genomes]
rs13360001	0.93[ASN][1000 genomes]
rs1355089	0.93[ASN][1000 genomes]
rs1423242	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1423243	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1508816	1.00[ASN][1000 genomes]
rs1533014	0.93[ASN][1000 genomes]
rs1567323	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs167583	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16871972	0.93[ASN][1000 genomes]
rs16872052	0.95[EUR][1000 genomes]
rs170299	0.83[EUR][1000 genomes]
rs17339188	0.95[EUR][1000 genomes]
rs17739462	0.93[ASN][1000 genomes]
rs17847285	0.93[ASN][1000 genomes]
rs1876654	1.00[ASN][1000 genomes]
rs188818	0.83[EUR][1000 genomes]
rs2113053	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2231910	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231917	1.00[ASN][1000 genomes]
rs2329815	0.93[ASN][1000 genomes]
rs2453241	0.83[EUR][1000 genomes]
rs277406	1.00[ASN][1000 genomes]
rs277407	1.00[ASN][1000 genomes]
rs277414	1.00[ASN][1000 genomes]
rs277416	1.00[ASN][1000 genomes]
rs28647448	0.95[EUR][1000 genomes]
rs316711	0.83[EUR][1000 genomes]
rs316712	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs316713	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs316714	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs316715	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs316729	0.83[EUR][1000 genomes]
rs316731	0.83[EUR][1000 genomes]
rs316732	0.83[EUR][1000 genomes]
rs316733	0.83[EUR][1000 genomes]
rs316734	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs316746	0.83[EUR][1000 genomes]
rs316747	0.83[EUR][1000 genomes]
rs316748	0.83[EUR][1000 genomes]
rs316749	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs316750	0.83[EUR][1000 genomes]
rs316752	0.83[EUR][1000 genomes]
rs316754	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs316756	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs316757	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs316758	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34339137	0.93[ASN][1000 genomes]
rs34493032	0.95[EUR][1000 genomes]
rs34663371	0.93[ASN][1000 genomes]
rs35077044	0.93[ASN][1000 genomes]
rs35154057	0.93[ASN][1000 genomes]
rs35252930	0.81[ASN][1000 genomes]
rs35613904	0.93[ASN][1000 genomes]
rs35890705	0.95[EUR][1000 genomes]
rs4050986	0.93[ASN][1000 genomes]
rs4289604	1.00[ASN][1000 genomes]
rs4324728	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	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957180	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957182	0.82[AMR][1000 genomes]
rs4957422	0.93[ASN][1000 genomes]
rs4957423	0.93[ASN][1000 genomes]
rs4957424	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	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957437	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957438	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957439	1.00[ASN][1000 genomes]
rs57944767	0.85[EUR][1000 genomes]
rs582920	0.88[EUR][1000 genomes]
rs583090	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs584067	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs590851	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs591384	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs602274	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs605064	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs607620	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs609410	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61058110	0.90[EUR][1000 genomes]
rs614952	0.83[EUR][1000 genomes]
rs621944	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs627476	0.83[EUR][1000 genomes]
rs641270	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6451582	1.00[ASN][1000 genomes]
rs654400	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66820325	0.93[ASN][1000 genomes]
rs67114999	0.93[ASN][1000 genomes]
rs67152480	0.90[EUR][1000 genomes]
rs675785	0.83[EUR][1000 genomes]
rs675812	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs676067	1.00[ASN][1000 genomes]
rs678061	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs679399	0.83[EUR][1000 genomes]
rs6881873	0.93[ASN][1000 genomes]
rs72746926	0.90[EUR][1000 genomes]
rs72746928	0.90[EUR][1000 genomes]
rs72746930	0.90[EUR][1000 genomes]
rs72746932	0.90[EUR][1000 genomes]
rs72746933	0.88[EUR][1000 genomes]
rs72746952	0.90[EUR][1000 genomes]
rs72746962	0.85[EUR][1000 genomes]
rs72746966	0.90[EUR][1000 genomes]
rs72746968	0.90[EUR][1000 genomes]
rs72746975	0.90[EUR][1000 genomes]
rs72746985	0.95[EUR][1000 genomes]
rs72746995	0.95[EUR][1000 genomes]
rs72746996	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746997	0.90[EUR][1000 genomes]
rs72746999	0.95[EUR][1000 genomes]
rs72747000	0.95[EUR][1000 genomes]
rs72747001	0.95[EUR][1000 genomes]
rs72747002	0.95[EUR][1000 genomes]
rs72748607	0.95[EUR][1000 genomes]
rs72748608	0.95[EUR][1000 genomes]
rs72748609	0.95[EUR][1000 genomes]
rs72748611	0.95[EUR][1000 genomes]
rs72748613	0.95[EUR][1000 genomes]
rs72748614	0.95[EUR][1000 genomes]
rs72748616	0.95[EUR][1000 genomes]
rs72748619	0.95[EUR][1000 genomes]
rs72748620	0.95[EUR][1000 genomes]
rs72761834	0.83[EUR][1000 genomes]
rs7341062	0.95[EUR][1000 genomes]
rs7706652	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7712106	0.95[EUR][1000 genomes]
rs7712911	0.93[ASN][1000 genomes]
rs7723992	0.95[EUR][1000 genomes]
rs7728482	1.00[ASN][1000 genomes]
rs7729014	0.93[ASN][1000 genomes]
rs7733096	0.93[ASN][1000 genomes]
rs9292825	0.86[ASN][1000 genomes]
rs9292826	0.90[EUR][1000 genomes]
rs9292828	0.90[EUR][1000 genomes]
rs9292832	0.95[EUR][1000 genomes]
rs9885033	0.95[EUR][1000 genomes]
rs9885117	0.95[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72746983	OXCT1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41871200-41872800	Enhancers	NHDF-Ad	bronchial
2	chr5:41871200-41873000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:41871200-41873000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:41871200-41873000	Enhancers	Fetal Muscle Leg	muscle
5	chr5:41871400-41872800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:41871400-41872800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:41871600-41874600	Weak transcription	GM12878-XiMat	blood
8	chr5:41871600-41879200	Weak transcription	Fetal Kidney	kidney
9	chr5:41872200-41874800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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