Variant report

Variant	rs6683531
Chromosome Location	chr1:152433928-152433929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13374567	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13375087	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865646	0.97[AFR][1000 genomes]
rs58257590	0.92[AFR][1000 genomes]
rs59051498	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60165719	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60342461	0.96[AFR][1000 genomes]
rs60456652	0.96[AFR][1000 genomes]
rs74127973	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128215	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128225	0.83[AFR][1000 genomes]
rs74128227	0.96[AFR][1000 genomes]
rs74128230	0.86[AFR][1000 genomes]
rs7521367	0.86[AFR][1000 genomes]
rs7536684	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv872444	chr1:152400361-152440753	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv824664	chr1:152409024-152434443	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv463850	chr1:152411090-152434009	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv547858	chr1:152411090-152434009	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv872445	chr1:152411813-152440753	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	3 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	chr1:152432800-152434200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:152433000-152434000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:152433000-152434200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:152433000-152435000	Weak transcription	Spleen	Spleen
5	chr1:152433200-152434200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:152433600-152434200	Enhancers	GM12878-XiMat	blood
7	chr1:152433800-152434200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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