Variant report

Variant	rs72748636
Chromosome Location	chr5:42015558-42015559
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	chr5:42010842..42015595-chr5:42016092..42019954,4	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10044526	1.00[EUR][1000 genomes]
rs11738449	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11742939	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11744111	0.81[EUR][1000 genomes]
rs13360765	0.98[EUR][1000 genomes]
rs16872094	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16872097	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16872099	1.00[EUR][1000 genomes]
rs16872100	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs16872111	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs16872114	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17586491	0.90[ASN][1000 genomes]
rs17586526	0.92[ASN][1000 genomes]
rs17586540	0.92[ASN][1000 genomes]
rs1813615	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1813616	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2011105	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs202299	0.92[ASN][1000 genomes]
rs2113053	0.91[EUR][1000 genomes]
rs2161581	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs276233	0.89[ASN][1000 genomes]
rs276234	0.89[ASN][1000 genomes]
rs276237	0.89[ASN][1000 genomes]
rs276238	0.83[ASN][1000 genomes]
rs276239	0.89[ASN][1000 genomes]
rs276240	0.89[ASN][1000 genomes]
rs276242	0.89[ASN][1000 genomes]
rs276243	0.89[ASN][1000 genomes]
rs276246	0.89[ASN][1000 genomes]
rs276270	0.87[ASN][1000 genomes]
rs276277	0.85[ASN][1000 genomes]
rs276289	0.92[ASN][1000 genomes]
rs276290	0.87[ASN][1000 genomes]
rs276291	0.92[ASN][1000 genomes]
rs276294	0.92[ASN][1000 genomes]
rs276306	0.92[ASN][1000 genomes]
rs276307	0.92[ASN][1000 genomes]
rs276309	0.90[ASN][1000 genomes]
rs276311	0.92[ASN][1000 genomes]
rs276314	0.90[ASN][1000 genomes]
rs276315	0.92[ASN][1000 genomes]
rs34226693	0.92[ASN][1000 genomes]
rs4279375	0.83[ASN][1000 genomes]
rs4342369	0.92[ASN][1000 genomes]
rs4358567	0.92[ASN][1000 genomes]
rs4358568	0.92[ASN][1000 genomes]
rs4590218	0.92[ASN][1000 genomes]
rs4626371	0.81[EUR][1000 genomes]
rs4957182	0.89[EUR][1000 genomes]
rs4957190	0.92[ASN][1000 genomes]
rs4957191	0.92[ASN][1000 genomes]
rs4957192	0.92[ASN][1000 genomes]
rs4957446	0.92[ASN][1000 genomes]
rs4957447	0.92[ASN][1000 genomes]
rs4957449	0.92[ASN][1000 genomes]
rs59778370	1.00[EUR][1000 genomes]
rs6451589	0.92[ASN][1000 genomes]
rs666080	0.89[ASN][1000 genomes]
rs666581	0.81[EUR][1000 genomes]
rs6870241	1.00[EUR][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	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72748638	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72748639	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72748641	0.92[AFR][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]
rs7341123	0.92[ASN][1000 genomes]
rs7708373	0.92[ASN][1000 genomes]
rs7708493	0.92[ASN][1000 genomes]
rs931231	0.81[ASN][1000 genomes]
rs989747	0.96[AFR][1000 genomes];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	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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42013400-42015600	Enhancers	Liver	Liver
2	chr5:42014400-42016400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:42014800-42016600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:42015200-42016400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:42015200-42016600	Enhancers	HSMM	muscle
6	chr5:42015200-42016600	Enhancers	HSMMtube	muscle
7	chr5:42015400-42015800	Enhancers	NHLF	lung
8	chr5:42015400-42016200	Enhancers	NH-A	brain
9	chr5:42015400-42016400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:42015400-42016600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:42015400-42016600	Enhancers	NHDF-Ad	bronchial

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