Variant report

Variant	rs11034493
Chromosome Location	chr11:4905202-4905203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4899835..4902548-chr11:4904411..4907145,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1015594	0.82[JPT][hapmap]
rs10768352	1.00[CHB][hapmap]
rs10836748	1.00[CHB][hapmap]
rs10836762	0.95[ASN][1000 genomes]
rs10836850	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10836851	0.91[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10836856	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10836868	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10836896	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs10836912	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11034193	1.00[CHB][hapmap]
rs11034203	1.00[CHB][hapmap];0.82[CHD][hapmap]
rs11034360	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11034368	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs11034418	1.00[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11034428	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11034429	1.00[CHB][hapmap]
rs11034467	0.91[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11034541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs11034563	1.00[CHB][hapmap]
rs11034615	1.00[CHB][hapmap];0.81[MEX][hapmap]
rs1155740	0.82[JPT][hapmap]
rs11600256	1.00[CHB][hapmap]
rs11601065	1.00[CHB][hapmap];0.82[CHD][hapmap]
rs11602499	1.00[CHB][hapmap]
rs11603903	0.82[JPT][hapmap]
rs12273277	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12276692	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12291286	1.00[CHB][hapmap]
rs12360722	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12361514	1.00[CHB][hapmap]
rs12361955	1.00[CHB][hapmap];0.82[CHD][hapmap]
rs12364864	1.00[CHB][hapmap]
rs1347274	1.00[CHB][hapmap]
rs1368823	1.00[CHB][hapmap];0.82[CHD][hapmap]
rs1368824	1.00[CHB][hapmap];0.82[CHD][hapmap];0.88[MKK][hapmap]
rs1433917	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433918	0.82[JPT][hapmap]
rs1583350	1.00[CHB][hapmap]
rs16906639	1.00[CHB][hapmap]
rs16938619	1.00[JPT][hapmap]
rs17250052	1.00[CHB][hapmap]
rs17250577	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17252989	1.00[CHB][hapmap]
rs17324812	0.82[JPT][hapmap]
rs17330155	1.00[CHB][hapmap];0.83[GIH][hapmap];0.81[MEX][hapmap];0.84[ASN][1000 genomes]
rs1816448	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs1865286	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs2570591	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs4910690	0.82[JPT][hapmap]
rs4910692	0.83[GIH][hapmap]
rs4910693	1.00[CHB][hapmap];0.81[MEX][hapmap]
rs7949235	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	esv2760633	chr11:4803980-4910384	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1035355	chr11:4805922-4907672	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1039703	chr11:4806669-4910372	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv553176	chr11:4806706-4909000	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv553178	chr11:4806872-4909000	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv553179	chr11:4806872-4910224	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv553181	chr11:4811933-4910224	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv553182	chr11:4814850-4909000	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv553183	chr11:4815348-4909000	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv467666	chr11:4815348-4917089	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv553184	chr11:4815348-4917089	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv553185	chr11:4816548-4905202	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	nsv553188	chr11:4823783-4909000	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11034493	OR51G2	cis	cerebellum	SCAN
rs11034493	OR51I2	cis	parietal	SCAN
rs11034493	EPHB1	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4903600-4905600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:4904800-4905400	Enhancers	K562	blood

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