Variant report

Variant	rs72748641
Chromosome Location	chr5:42020444-42020445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10035434	0.82[AMR][1000 genomes]
rs10040757	0.82[AMR][1000 genomes]
rs10043326	0.82[AMR][1000 genomes]
rs10043371	0.82[AMR][1000 genomes]
rs10044526	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10052226	0.82[AMR][1000 genomes]
rs10053522	0.82[AMR][1000 genomes]
rs10054130	0.82[AMR][1000 genomes]
rs10057546	0.82[AMR][1000 genomes]
rs10057587	0.82[AMR][1000 genomes]
rs10057645	0.82[AMR][1000 genomes]
rs10065016	0.82[AMR][1000 genomes]
rs10065335	0.82[AMR][1000 genomes]
rs10075429	0.82[AMR][1000 genomes]
rs10076689	0.82[AMR][1000 genomes]
rs10079651	0.82[AMR][1000 genomes]
rs10472359	0.82[AMR][1000 genomes]
rs10473252	0.82[AMR][1000 genomes]
rs11738449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11742939	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11744111	0.81[EUR][1000 genomes]
rs11745460	0.82[AMR][1000 genomes]
rs11745530	0.82[AMR][1000 genomes]
rs11746530	0.82[AMR][1000 genomes]
rs11747648	0.82[AMR][1000 genomes]
rs11748933	0.82[AMR][1000 genomes]
rs13355194	0.82[AMR][1000 genomes]
rs13358459	0.82[AMR][1000 genomes]
rs13360765	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16872052	0.82[AMR][1000 genomes]
rs16872094	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872097	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872099	1.00[EUR][1000 genomes]
rs16872100	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16872111	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16872114	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1813615	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1813616	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2011105	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2113053	0.91[EUR][1000 genomes]
rs2161581	1.00[EUR][1000 genomes]
rs28647448	0.82[AMR][1000 genomes]
rs34493032	0.82[AMR][1000 genomes]
rs35890705	0.82[AMR][1000 genomes]
rs4626371	0.81[EUR][1000 genomes]
rs4957182	0.89[EUR][1000 genomes]
rs59778370	1.00[EUR][1000 genomes]
rs666581	0.81[EUR][1000 genomes]
rs6870241	1.00[EUR][1000 genomes]
rs72746985	0.82[AMR][1000 genomes]
rs72746999	0.82[AMR][1000 genomes]
rs72747000	0.82[AMR][1000 genomes]
rs72747002	0.82[AMR][1000 genomes]
rs72748607	0.82[AMR][1000 genomes]
rs72748608	0.82[AMR][1000 genomes]
rs72748609	0.82[AMR][1000 genomes]
rs72748611	0.82[AMR][1000 genomes]
rs72748613	0.82[AMR][1000 genomes]
rs72748614	0.82[AMR][1000 genomes]
rs72748616	0.82[AMR][1000 genomes]
rs72748619	0.82[AMR][1000 genomes]
rs72748623	0.91[EUR][1000 genomes]
rs72748626	0.91[EUR][1000 genomes]
rs72748630	0.98[EUR][1000 genomes]
rs72748631	0.94[EUR][1000 genomes]
rs72748633	1.00[EUR][1000 genomes]
rs72748635	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748636	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72748638	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748639	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748645	0.98[EUR][1000 genomes]
rs72748646	1.00[EUR][1000 genomes]
rs72748687	0.81[EUR][1000 genomes]
rs72748699	0.81[EUR][1000 genomes]
rs7341062	0.82[AMR][1000 genomes]
rs7712106	0.82[AMR][1000 genomes]
rs9292832	0.82[AMR][1000 genomes]
rs9885033	0.82[AMR][1000 genomes]
rs9885117	0.82[AMR][1000 genomes]
rs989747	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
4	nsv880627	chr5:41966551-42087954	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv1843569	chr5:42008999-42128184	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1032171	chr5:42015138-42220940	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv462125	chr5:42019110-42192620	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv597885	chr5:42019110-42192620	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42016200-42022200	Weak transcription	NH-A	brain
2	chr5:42016400-42021000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:42016600-42020600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:42016600-42020600	Weak transcription	HSMMtube	muscle
5	chr5:42016600-42020800	Weak transcription	HSMM	muscle
6	chr5:42016600-42021000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:42020400-42023800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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