Variant report

Variant	rs1928340
Chromosome Location	chr1:193899300-193899301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10921464	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12057603	0.83[AFR][1000 genomes]
rs12757092	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1327440	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34628459	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34779066	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36015393	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4657892	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs574986	0.90[EUR][1000 genomes]
rs591844	0.88[EUR][1000 genomes]
rs602998	0.81[EUR][1000 genomes]
rs609415	0.89[EUR][1000 genomes]
rs642380	0.89[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	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3372415	chr1:193612172-193988265	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv548663	chr1:193847597-193901506	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv3391029	chr1:193882344-193918949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv872834	chr1:193889533-194482304	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193897200-193899600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:193898200-193899800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr1:193898200-193900200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:193898200-193900200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:193898200-193900600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:193898400-193899400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:193898400-193900200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:193898400-193900200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:193898400-193900200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:193898600-193900200	Enhancers	HUES64 Cell Line	embryonic stem cell

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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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