Variant report

Variant	rs73984428
Chromosome Location	chr2:205795420-205795421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs55941034	1.00[AMR][1000 genomes]
rs57531270	1.00[AMR][1000 genomes]
rs58416129	1.00[AMR][1000 genomes]
rs59381758	1.00[AMR][1000 genomes]
rs60086789	1.00[AMR][1000 genomes]
rs60446736	1.00[AMR][1000 genomes]
rs61001089	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61286794	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6713878	1.00[AMR][1000 genomes]
rs6753755	1.00[AMR][1000 genomes]
rs73982523	1.00[AMR][1000 genomes]
rs73982525	1.00[AMR][1000 genomes]
rs73982529	1.00[AMR][1000 genomes]
rs73982531	1.00[AMR][1000 genomes]
rs73982532	1.00[AMR][1000 genomes]
rs73982556	1.00[AMR][1000 genomes]
rs73982587	1.00[AMR][1000 genomes]
rs73982600	1.00[AMR][1000 genomes]
rs73984429	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984430	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984488	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984489	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984490	1.00[AMR][1000 genomes]
rs7579299	1.00[AMR][1000 genomes]
rs7597714	1.00[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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205792400-205796000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:205794200-205796400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:205795400-205795600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr2:205795400-205795600	Enhancers	Rectal Smooth Muscle	rectum
5	chr2:205795400-205795800	Enhancers	Colon Smooth Muscle	Colon
6	chr2:205795400-205796800	Enhancers	Duodenum Smooth Muscle	Duodenum

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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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