Variant report

Variant	rs73248574
Chromosome Location	chr20:16083612-16083613
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12480510	1.00[AMR][1000 genomes]
rs57703908	1.00[AMR][1000 genomes]
rs59529351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73240822	1.00[AMR][1000 genomes]
rs73244633	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8117514	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3447866	chr20:15799286-16115291	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1059778	chr20:15999519-16165895	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv544207	chr20:15999519-16165895	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1061301	chr20:16007489-16097070	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv979489	chr20:16077754-16084263	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
7	nsv520909	chr20:16078767-16087405	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
8	nsv828692	chr20:16078779-16084992	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
9	esv3454146	chr20:16078865-16085497	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
10	nsv828693	chr20:16078906-16084992	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
11	esv3454145	chr20:16078916-16085462	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
12	esv3454142	chr20:16078930-16085379	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
13	esv3454144	chr20:16078931-16085437	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
14	esv3454143	chr20:16079034-16085377	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
15	esv3454147	chr20:16079050-16085373	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16078200-16084000	Enhancers	Primary B cells from cord blood	blood
2	chr20:16081000-16083800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr20:16081800-16084200	Enhancers	Primary B cells from peripheral blood	blood
4	chr20:16081800-16087600	Weak transcription	Right Atrium	heart
5	chr20:16083400-16084600	Enhancers	Colon Smooth Muscle	Colon
6	chr20:16083600-16084600	Enhancers	Rectal Smooth Muscle	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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