Variant report

Variant	rs74128230
Chromosome Location	chr1:152453159-152453160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12061033	1.00[EUR][1000 genomes]
rs12069185	1.00[EUR][1000 genomes]
rs12354138	1.00[EUR][1000 genomes]
rs13374567	0.84[AFR][1000 genomes]
rs13375087	0.86[AFR][1000 genomes]
rs16865646	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs476589	0.86[AFR][1000 genomes]
rs58257590	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59051498	0.84[AFR][1000 genomes]
rs60165719	0.86[AFR][1000 genomes]
rs60342461	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60456652	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60612664	1.00[EUR][1000 genomes]
rs6683531	0.86[AFR][1000 genomes]
rs74127973	0.84[AFR][1000 genomes]
rs74128215	0.86[AFR][1000 genomes]
rs74128225	1.00[AMR][1000 genomes]
rs74128227	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7521367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916016	chr1:152337775-152590520	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv872443	chr1:152400055-152459747	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1014393	chr1:152451935-152491693	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv17631	chr1:152452226-152453261	ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152449000-152453800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:152452200-152453600	Enhancers	Primary T cells fromperipheralblood	blood
3	chr1:152452400-152453400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:152452800-152453200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:152452800-152453200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:152452800-152453200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:152452800-152453600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:152452800-152455400	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:152453000-152453400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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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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