Variant report

Variant	rs1251470
Chromosome Location	chr1:76533240-76533241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10443175	0.96[ASN][1000 genomes]
rs11162083	0.82[JPT][hapmap]
rs1146658	0.95[YRI][hapmap]
rs12123144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12123760	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12127822	0.93[ASN][1000 genomes]
rs1251467	1.00[CEU][hapmap];0.82[JPT][hapmap];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1251471	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251473	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251474	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251506	0.82[AFR][1000 genomes]
rs1251509	0.85[AFR][1000 genomes]
rs1251510	0.81[AFR][1000 genomes]
rs1763465	1.00[JPT][hapmap]

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	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv870968	chr1:76490234-76552475	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1477	chr1:76515963-76534339	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv521786	chr1:76525783-76535434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv871862	chr1:76525783-76598209	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76531200-76533800	Weak transcription	Fetal Lung	lung
2	chr1:76531200-76533800	Weak transcription	A549	lung
3	chr1:76531200-76535200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:76531400-76534000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:76531400-76534200	Weak transcription	Fetal Stomach	stomach
6	chr1:76531400-76534400	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:76531400-76535000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:76531400-76538600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:76531400-76539800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:76531600-76534000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:76531800-76534000	Enhancers	HUVEC	blood vessel
12	chr1:76532600-76533800	Weak transcription	NHEK	skin
13	chr1:76532600-76540000	Weak transcription	Aorta	Aorta
14	chr1:76532800-76533800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:76532800-76533800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:76532800-76534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:76532800-76534000	Weak transcription	NH-A	brain
18	chr1:76533200-76535400	Enhancers	Muscle Satellite Cultured Cells	--

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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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