Variant report

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1013629	0.98[EUR][1000 genomes]
rs10430051	0.83[EUR][1000 genomes]
rs10493579	1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs11162071	0.81[ASN][1000 genomes]
rs11162072	0.81[ASN][1000 genomes]
rs11808413	0.86[AFR][1000 genomes]
rs1251490	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12753569	0.83[EUR][1000 genomes]
rs1340689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370715	0.87[AFR][1000 genomes]
rs17097922	0.84[AFR][1000 genomes]
rs17097968	0.89[AFR][1000 genomes]
rs17097983	0.91[AFR][1000 genomes]
rs17097997	0.91[AFR][1000 genomes]
rs17606806	0.81[ASN][1000 genomes]
rs1856835	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35821217	0.81[ASN][1000 genomes]
rs4381138	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4576618	0.81[ASN][1000 genomes]
rs61771304	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6593523	0.83[EUR][1000 genomes]
rs6668566	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669349	0.81[ASN][1000 genomes]
rs6676370	0.83[EUR][1000 genomes]
rs6696116	0.83[EUR][1000 genomes]

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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1013630	NEGR1	cis	parietal	SCAN
rs1013630	LRRIQ3	cis	cerebellum	SCAN
rs1013630	ST6GALNAC3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76506400-76514000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:76506600-76514000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:76507800-76514000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:76509800-76514000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:76513600-76515200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:76513600-76515400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:76513800-76514400	Enhancers	Fetal Lung	lung
8	chr1:76513800-76515400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:76513800-76515400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:76513800-76515400	Enhancers	Fetal Brain Male	brain

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