Variant report

Variant	rs587203
Chromosome Location	chr1:210463786-210463787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210404856..210407688-chr1:210462547..210464160,2	MCF-7	breast:
2	chr1:210463032..210465736-chr1:210546022..210548079,2	MCF-7	breast:
3	chr1:210463570..210465979-chr1:210545857..210548788,4	MCF-7	breast:
4	chr1:210462820..210467272-chr1:210545539..210548914,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf133-1	chr1:210463515-210463867	NONHSAT009255
2	lnc-C1orf133-1	chr1:210463516-210463867	XLOC_001188

No data

Variant related genes	Relation type
ENSG00000082497	Chromatin interaction
ENSG00000203706	Chromatin interaction
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10489391	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10863818	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11119455	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11119456	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12030512	0.97[EUR][1000 genomes]
rs12030856	0.97[EUR][1000 genomes]
rs12034871	0.97[EUR][1000 genomes]
rs12040684	0.97[EUR][1000 genomes]
rs12069380	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12069491	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12070628	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12074229	0.95[EUR][1000 genomes]
rs12138216	0.91[CEU][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs127043	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1338290	0.96[EUR][1000 genomes]
rs4844987	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4844988	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4844989	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4844996	0.90[EUR][1000 genomes]
rs583148	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58366398	0.97[EUR][1000 genomes]
rs588197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60154123	0.86[EUR][1000 genomes]
rs608791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs614167	0.84[AMR][1000 genomes]
rs628423	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs628869	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs628908	0.95[TSI][hapmap];0.84[AMR][1000 genomes]
rs634601	0.85[AMR][1000 genomes]
rs645311	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs645890	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs646512	0.86[ASN][1000 genomes]
rs650728	1.00[GIH][hapmap];0.95[TSI][hapmap]
rs650854	0.94[EUR][1000 genomes]
rs652241	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs652256	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs661190	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs662424	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs664072	0.84[AMR][1000 genomes]
rs664097	0.85[AMR][1000 genomes]
rs689248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs701942	0.84[AMR][1000 genomes]
rs701943	1.00[GIH][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes]
rs701944	0.80[TSI][hapmap];0.84[AMR][1000 genomes]
rs815358	0.81[AMR][1000 genomes]
rs845452	0.90[TSI][hapmap];0.84[AMR][1000 genomes]
rs845455	0.89[GIH][hapmap];0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs587203	ELK4	cis	cerebellum	SCAN
rs587203	DYRK3	cis	parietal	SCAN
rs587203	SYT14	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210457600-210464600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:210461800-210464800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:210462400-210464800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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