Variant report

Variant	rs17300741
Chromosome Location	chr11:64331462-64331463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64330087..64331610-chr11:64382078..64384339,2	K562	blood:
2	chr11:64326089..64328505-chr11:64330368..64332931,2	K562	blood:
3	chr11:64322966..64325486-chr11:64330768..64332819,3	K562	blood:
4	chr11:64319994..64322446-chr11:64331436..64333325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168065	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11231808	0.81[ASN][1000 genomes]
rs11231815	0.97[ASN][1000 genomes]
rs11231822	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362644	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12417589	0.81[ASN][1000 genomes]
rs12808503	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17300895	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17372915	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2078267	0.96[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2277312	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34812986	0.83[EUR][1000 genomes]
rs3759053	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782099	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930195	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4930426	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs57827982	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6591859	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7102027	0.83[EUR][1000 genomes]
rs7123852	0.81[ASN][1000 genomes]
rs7124676	0.92[CEU][hapmap];0.84[GIH][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs71456318	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7929308	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940321	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943154	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][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	nsv1035485	chr11:64228847-64354869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897692	chr11:64305452-64386526	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Uric acid levels	19503597	GWAS catalog

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs17300741	RTN3	cis	parietal	SCAN
rs17300741	PYGM	cis	parietal	SCAN
rs17300741	EHBP1L1	cis	parietal	SCAN
rs17300741	MARK2	cis	parietal	SCAN
rs17300741	RAB3IL1	cis	parietal	SCAN
rs17300741	TBC1D10C	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64322800-64334000	Weak transcription	Right Atrium	heart
2	chr11:64323000-64333400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:64323800-64332600	Weak transcription	Pancreas	Pancrea
4	chr11:64326200-64333200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:64328000-64332600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:64328000-64332600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:64328000-64332600	Weak transcription	Spleen	Spleen
8	chr11:64328000-64332800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:64328000-64333000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:64328000-64333400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:64328000-64333600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:64328000-64333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:64328200-64332600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:64328200-64333000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:64328200-64333400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:64328400-64332400	Weak transcription	HepG2	liver
17	chr11:64328400-64332600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:64328400-64332600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:64329800-64331600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:64330800-64334000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:64331400-64332400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:64331400-64336000	Enhancers	Placenta	Placenta

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