Variant report

Variant	rs12408827
Chromosome Location	chr1:75823198-75823199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75820905..75823291-chr1:75839784..75841753,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10493560	1.00[CHB][hapmap]
rs10493563	1.00[CHB][hapmap]
rs10493567	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10493568	1.00[CHB][hapmap]
rs10493569	1.00[JPT][hapmap]
rs10493572	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10493574	0.90[ASN][1000 genomes]
rs10493575	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.84[TSI][hapmap];0.91[ASN][1000 genomes]
rs12085115	1.00[CHB][hapmap]
rs12087682	1.00[CHB][hapmap]
rs12122907	1.00[JPT][hapmap]
rs12127347	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12401896	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs12405357	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs12408190	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs12408226	0.91[ASN][1000 genomes]
rs12410333	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs12411159	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1249664	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1249665	0.90[ASN][1000 genomes]
rs1249666	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1249667	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1249668	1.00[JPT][hapmap]
rs1262045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1505259	1.00[JPT][hapmap]
rs17096406	1.00[CHB][hapmap]
rs17096504	1.00[CHB][hapmap]
rs17096647	1.00[CHD][hapmap]
rs17096776	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17096782	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17096851	0.91[ASN][1000 genomes]
rs17096888	0.91[ASN][1000 genomes]
rs17097953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17097955	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17567259	1.00[CHB][hapmap]
rs17567748	1.00[CHB][hapmap]
rs17581457	0.90[ASN][1000 genomes]
rs17584320	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap]
rs17584397	0.91[ASN][1000 genomes]
rs17643802	0.90[ASN][1000 genomes]
rs17644957	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs1857353	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap]
rs1857354	0.89[CEU][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap]
rs1858630	0.91[ASN][1000 genomes]
rs1858631	0.91[ASN][1000 genomes]
rs1876032	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1913118	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs1936359	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2040079	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap]
rs2040082	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs2221458	1.00[CHB][hapmap]
rs3899859	0.91[ASN][1000 genomes]
rs4540592	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap]
rs4949666	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949855	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs58890548	0.91[ASN][1000 genomes]
rs60194830	0.91[ASN][1000 genomes]
rs74089232	0.91[ASN][1000 genomes]
rs74089237	0.91[ASN][1000 genomes]
rs74089238	0.91[ASN][1000 genomes]
rs74089245	0.91[ASN][1000 genomes]
rs983331	0.88[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3368999	chr1:75524762-75933220	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1013952	chr1:75716654-75936048	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv535004	chr1:75716654-75936048	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1455	chr1:75812377-75864182	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75822800-75823200	Active TSS	K562	blood

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