Variant report

Variant	rs3121907
Chromosome Location	chr1:58540836-58540837
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	chr1:58539325..58541769-chr1:58543438..58546362,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10889083	0.83[ASN][1000 genomes]
rs10889084	0.80[CHB][hapmap]
rs1106367	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs12031853	0.81[CHB][hapmap]
rs12041539	0.89[JPT][hapmap]
rs12058945	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs1213764	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs1213770	0.81[CHB][hapmap];0.81[CHD][hapmap];0.81[ASN][1000 genomes]
rs1213771	0.81[ASN][1000 genomes]
rs1320555	0.81[CHB][hapmap];0.84[CHD][hapmap];0.81[ASN][1000 genomes]
rs1359495	0.85[CHB][hapmap]
rs17116867	0.81[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2764682	0.80[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2764685	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764686	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764687	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2806405	0.94[ASW][hapmap];0.92[CEU][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap]
rs2806406	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3118212	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58029039	0.82[ASN][1000 genomes]
rs59081310	0.82[ASN][1000 genomes]
rs7522031	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs821525	0.81[ASN][1000 genomes]
rs821526	0.81[ASN][1000 genomes]
rs821527	0.81[CHB][hapmap];0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs821528	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs946310	0.81[CHB][hapmap];0.84[CHD][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530017	chr1:58002290-58669736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv431379	chr1:58224212-58802608	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:58539000-58543000	Enhancers	Fetal Brain Male	brain
2	chr1:58539600-58541000	Weak transcription	Fetal Brain Female	brain
3	chr1:58540400-58541200	Enhancers	Fetal Lung	lung
4	chr1:58540400-58541200	Enhancers	Right Ventricle	heart
5	chr1:58540400-58541800	Enhancers	Fetal Heart	heart
6	chr1:58540600-58541200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:58540600-58541200	Enhancers	Ovary	ovary

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