Variant report

Variant	rs11748933
Chromosome Location	chr5:41878413-41878414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41864837..41872825-chr5:41873378..41878557,10	K562	blood:
2	chr5:41877897..41883547-chr5:41886069..41890189,5	K562	blood:

Variant related genes	Relation type
ENSG00000248668	Chromatin interaction
ENSG00000083720	Chromatin interaction

Extended variants
information (count: 156 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10035434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10040757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10043326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10043371	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10044526	0.88[AMR][1000 genomes]
rs10045473	1.00[EUR][1000 genomes]
rs10051322	1.00[EUR][1000 genomes]
rs10052226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10053522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10054130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10057546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10057587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10057645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10059424	0.97[EUR][1000 genomes]
rs10060170	1.00[EUR][1000 genomes]
rs10062703	1.00[EUR][1000 genomes]
rs10064298	1.00[EUR][1000 genomes]
rs10064380	0.95[EUR][1000 genomes]
rs10065016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10065335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10069638	1.00[EUR][1000 genomes]
rs10070201	1.00[EUR][1000 genomes]
rs10075429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10076689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10077481	0.95[EUR][1000 genomes]
rs10078011	0.95[EUR][1000 genomes]
rs10079651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1027348	0.95[EUR][1000 genomes]
rs10472357	1.00[EUR][1000 genomes]
rs10472359	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10473252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10473255	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11738449	0.82[AMR][1000 genomes]
rs11738956	0.95[EUR][1000 genomes]
rs11742939	0.82[AMR][1000 genomes]
rs11744826	0.87[EUR][1000 genomes]
rs11745460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11745530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11746530	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11747648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11747941	0.87[EUR][1000 genomes]
rs13355194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13357951	1.00[EUR][1000 genomes]
rs13358459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13360765	0.88[AMR][1000 genomes]
rs1423242	0.87[EUR][1000 genomes]
rs1423243	0.87[EUR][1000 genomes]
rs1567323	1.00[EUR][1000 genomes]
rs167583	0.87[EUR][1000 genomes]
rs16872052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872094	0.85[AMR][1000 genomes]
rs16872097	0.88[AMR][1000 genomes]
rs16872100	0.82[AMR][1000 genomes]
rs170299	0.87[EUR][1000 genomes]
rs17339188	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1813615	0.82[AMR][1000 genomes]
rs1813616	0.82[AMR][1000 genomes]
rs188818	0.87[EUR][1000 genomes]
rs2011105	0.82[AMR][1000 genomes]
rs2113053	0.83[EUR][1000 genomes]
rs2231910	1.00[EUR][1000 genomes]
rs28647448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs316710	0.83[EUR][1000 genomes]
rs316711	0.87[EUR][1000 genomes]
rs316712	0.87[EUR][1000 genomes]
rs316713	0.87[EUR][1000 genomes]
rs316714	0.87[EUR][1000 genomes]
rs316715	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	0.87[EUR][1000 genomes]
rs316746	0.87[EUR][1000 genomes]
rs316747	0.87[EUR][1000 genomes]
rs316748	0.87[EUR][1000 genomes]
rs316749	0.87[EUR][1000 genomes]
rs316750	0.87[EUR][1000 genomes]
rs316752	0.87[EUR][1000 genomes]
rs316754	0.87[EUR][1000 genomes]
rs316756	0.87[EUR][1000 genomes]
rs316757	0.87[EUR][1000 genomes]
rs316758	0.87[EUR][1000 genomes]
rs34493032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35890705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4957178	1.00[EUR][1000 genomes]
rs4957180	1.00[EUR][1000 genomes]
rs4957436	1.00[EUR][1000 genomes]
rs4957437	1.00[EUR][1000 genomes]
rs4957438	1.00[EUR][1000 genomes]
rs57944767	0.90[EUR][1000 genomes]
rs582920	0.92[EUR][1000 genomes]
rs583090	0.87[EUR][1000 genomes]
rs584067	0.90[EUR][1000 genomes]
rs590851	0.90[EUR][1000 genomes]
rs591384	0.85[EUR][1000 genomes]
rs602274	0.90[EUR][1000 genomes]
rs605064	0.85[EUR][1000 genomes]
rs607620	0.87[EUR][1000 genomes]
rs609410	0.87[EUR][1000 genomes]
rs61058110	0.95[EUR][1000 genomes]
rs621944	0.87[EUR][1000 genomes]
rs627476	0.87[EUR][1000 genomes]
rs641270	0.87[EUR][1000 genomes]
rs654400	0.87[EUR][1000 genomes]
rs67152480	0.95[EUR][1000 genomes]
rs675785	0.87[EUR][1000 genomes]
rs675812	0.87[EUR][1000 genomes]
rs678061	0.92[EUR][1000 genomes]
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	0.95[EUR][1000 genomes]
rs72746985	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72746995	1.00[EUR][1000 genomes]
rs72746996	0.95[EUR][1000 genomes]
rs72746997	0.95[EUR][1000 genomes]
rs72746999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72747000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72747001	1.00[EUR][1000 genomes]
rs72747002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748620	1.00[EUR][1000 genomes]
rs72748623	0.83[EUR][1000 genomes]
rs72748635	0.85[AMR][1000 genomes]
rs72748641	0.82[AMR][1000 genomes]
rs72761834	0.87[EUR][1000 genomes]
rs7341062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7706652	0.87[EUR][1000 genomes]
rs7712106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7723992	1.00[EUR][1000 genomes]
rs9292826	0.95[EUR][1000 genomes]
rs9292828	0.95[EUR][1000 genomes]
rs9292832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9885033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9885117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs989747	0.82[AMR][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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41871600-41879200	Weak transcription	Fetal Kidney	kidney
2	chr5:41877000-41878600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:41878200-41879600	Enhancers	HepG2	liver
4	chr5:41878200-41880000	Enhancers	Fetal Lung	lung
5	chr5:41878400-41878600	Enhancers	Rectal Mucosa Donor 29	rectum

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