Variant report

Variant	rs9943506
Chromosome Location	chr11:32893797-32893798
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32892094..32893817-chr11:32914118..32916253,2	K562	blood:

Variant related genes	Relation type
ENSG00000060749	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10454479	1.00[JPT][hapmap]
rs10767973	1.00[JPT][hapmap]
rs11031939	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs11031949	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs11031951	0.83[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap]
rs11031952	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs11031975	0.85[EUR][1000 genomes]
rs11031978	1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs11031981	0.88[EUR][1000 genomes]
rs11031982	0.85[YRI][hapmap]
rs11031994	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11031999	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11032000	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11032012	0.85[YRI][hapmap]
rs11032017	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11032026	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11032043	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032060	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs11032069	0.87[YRI][hapmap]
rs11032072	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs11032074	1.00[JPT][hapmap]
rs11032076	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs12271387	0.85[YRI][hapmap]
rs12275668	0.82[YRI][hapmap]
rs12276553	0.82[YRI][hapmap]
rs12278625	0.85[YRI][hapmap]
rs12280927	0.85[YRI][hapmap]
rs12281351	0.85[YRI][hapmap]
rs12284266	0.90[AFR][1000 genomes]
rs12286919	0.85[YRI][hapmap]
rs12287194	0.85[YRI][hapmap]
rs12290105	0.85[YRI][hapmap]
rs12293579	0.87[YRI][hapmap]
rs12294145	0.87[YRI][hapmap]
rs1396994	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs174747	1.00[JPT][hapmap]
rs197702	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs197703	0.84[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs197706	0.84[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs197708	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs197711	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2143572	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2419772	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2419773	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2664693	0.89[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2746036	0.88[CEU][hapmap]
rs2746037	1.00[JPT][hapmap]
rs2786800	1.00[JPT][hapmap]
rs2900979	0.84[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2900980	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34991296	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4755451	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4755455	0.83[EUR][1000 genomes]
rs4755476	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs4756328	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4756373	1.00[JPT][hapmap]
rs4756385	1.00[JPT][hapmap]
rs6484610	1.00[JPT][hapmap]
rs652963	1.00[JPT][hapmap]
rs7101848	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7104368	1.00[JPT][hapmap]
rs7109323	0.86[EUR][1000 genomes]
rs7113870	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7124151	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7128509	1.00[JPT][hapmap]
rs7395190	1.00[JPT][hapmap]
rs7481878	1.00[JPT][hapmap]
rs761284	1.00[JPT][hapmap]
rs761285	0.88[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7931061	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7935374	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944318	1.00[JPT][hapmap]
rs7950261	0.89[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2757434	chr11:32792784-32958609	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv34742	chr11:32796092-33004024	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv897190	chr11:32801921-32951836	Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv897191	chr11:32805169-32903263	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv897192	chr11:32828760-32903263	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv897193	chr11:32838288-32903263	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9943506	C11orf46	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32892600-32895600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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