Variant report

Variant	rs1251489
Chromosome Location	chr1:76518701-76518702
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10443175	0.83[EUR][1000 genomes]
rs10782605	0.81[EUR][1000 genomes]
rs10873865	0.90[EUR][1000 genomes]
rs12123144	0.94[CEU][hapmap]
rs12123760	0.93[CEU][hapmap]
rs12125940	0.83[EUR][1000 genomes]
rs12126074	0.83[EUR][1000 genomes]
rs12145522	0.83[EUR][1000 genomes]
rs1251484	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs1251485	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs1251486	0.99[EUR][1000 genomes]
rs1251492	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251494	0.98[EUR][1000 genomes]
rs1251495	0.98[EUR][1000 genomes]
rs1251496	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251501	0.99[EUR][1000 genomes]
rs1251502	0.99[EUR][1000 genomes]
rs1251504	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1251505	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1251506	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1251507	0.99[EUR][1000 genomes]
rs1251509	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251510	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251511	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251512	0.99[EUR][1000 genomes]
rs1251513	0.99[EUR][1000 genomes]
rs1266117	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1340690	0.89[EUR][1000 genomes]
rs1340691	0.86[EUR][1000 genomes]
rs17607383	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17659615	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1770895	0.86[EUR][1000 genomes]
rs34354538	0.89[EUR][1000 genomes]
rs35318380	0.83[EUR][1000 genomes]
rs35381129	0.83[EUR][1000 genomes]
rs5022490	0.94[EUR][1000 genomes]
rs60182743	0.83[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	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	esv2754129	chr1:76489579-76529279	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	nsv947186	chr1:76512447-76530843	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1477	chr1:76515963-76534339	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76515200-76519000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:76517200-76519000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:76517600-76521400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:76517800-76519200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:76517800-76519400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:76517800-76520000	Enhancers	Fetal Stomach	stomach
7	chr1:76518000-76519000	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:76518000-76519400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:76518000-76519400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:76518000-76520200	Enhancers	Colon Smooth Muscle	Colon
11	chr1:76518200-76518800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr1:76518200-76519400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:76518200-76519600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:76518400-76518800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:76518400-76519200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:76518400-76519600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:76518400-76520600	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:76518600-76518800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:76518600-76518800	Enhancers	Brain Hippocampus Middle	brain
20	chr1:76518600-76519000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:76518600-76519200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:76518600-76519200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:76518600-76519200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:76518600-76519200	Enhancers	Brain Substantia Nigra	brain
25	chr1:76518600-76519200	Enhancers	Fetal Brain Male	brain
26	chr1:76518600-76519200	Enhancers	Fetal Lung	lung
27	chr1:76518600-76519200	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:76518600-76519400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:76518600-76519400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:76518600-76520000	Enhancers	Placenta Amnion	Placenta Amnion

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