Variant report

Variant	rs10518500
Chromosome Location	chr1:75808588-75808589
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	chr1:75804511..75807217-chr1:75808092..75810770,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10157357	1.00[JPT][hapmap]
rs10465736	1.00[JPT][hapmap]
rs10465738	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11163494	1.00[CHD][hapmap]
rs11163500	1.00[JPT][hapmap]
rs11806459	1.00[JPT][hapmap]
rs11806471	0.94[CEU][hapmap]
rs11809429	0.94[CEU][hapmap]
rs12057382	1.00[JPT][hapmap]
rs12057688	1.00[JPT][hapmap]
rs1249783	0.81[CEU][hapmap]
rs1249796	0.94[CEU][hapmap]
rs1249797	0.94[CEU][hapmap]
rs1249807	0.94[CEU][hapmap]
rs13373792	1.00[JPT][hapmap]
rs13373826	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1412715	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1443846	0.94[CEU][hapmap]
rs17096508	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs17096860	0.94[CEU][hapmap]
rs17096877	0.94[CEU][hapmap]
rs17584530	0.94[CEU][hapmap]
rs1778451	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1778454	0.94[CEU][hapmap]
rs1999493	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2083868	0.94[CEU][hapmap]
rs211784	1.00[JPT][hapmap]
rs211785	1.00[JPT][hapmap]
rs211787	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3845363	0.94[CEU][hapmap]
rs4141468	1.00[JPT][hapmap]
rs4598448	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs588830	0.87[CEU][hapmap];0.81[GIH][hapmap];0.91[TSI][hapmap]
rs590301	0.87[CEU][hapmap]
rs596515	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598649	0.81[CEU][hapmap]
rs602981	1.00[JPT][hapmap]
rs604745	0.87[CEU][hapmap]
rs617196	0.87[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs619696	1.00[JPT][hapmap]
rs625357	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs629615	0.87[CEU][hapmap];0.87[TSI][hapmap]
rs632017	1.00[JPT][hapmap]
rs632068	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635184	0.87[CEU][hapmap];0.87[TSI][hapmap]
rs639028	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs639866	1.00[JPT][hapmap]
rs642923	0.87[CEU][hapmap]
rs648869	0.87[CEU][hapmap];0.87[TSI][hapmap]
rs663620	0.87[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs664268	0.87[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs664593	0.81[CEU][hapmap];0.87[TSI][hapmap]
rs665545	0.93[CEU][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs6657734	0.94[CEU][hapmap]
rs6676696	0.94[CEU][hapmap]
rs671533	0.81[CEU][hapmap]
rs671919	0.81[CEU][hapmap]
rs675962	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs681689	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs694025	0.87[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10518500	FUBP1	cis	parietal	SCAN
rs10518500	SLC44A5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75807000-75809200	Enhancers	Brain Germinal Matrix	brain
2	chr1:75807000-75812400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:75807600-75808800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:75807800-75809200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:75808000-75808800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:75808000-75809200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:75808000-75809200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:75808000-75809800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:75808200-75808800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:75808200-75808800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:75808200-75808800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:75808200-75808800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:75808200-75809000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:75808200-75809000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:75808200-75809200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:75808200-75810400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:75808400-75808800	Enhancers	Fetal Brain Female	brain
18	chr1:75808400-75811200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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