Variant report

Variant	rs11168433
Chromosome Location	chr12:48558064-48558065
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48500571..48503072-chr12:48556879..48559027,2	K562	blood:
2	chr12:48549808..48555740-chr12:48556420..48560606,6	K562	blood:
3	chr12:48239241..48242168-chr12:48557559..48560161,2	K562	blood:

Variant related genes	Relation type
ENSG00000177981	Chromatin interaction
ENSG00000258051	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10082861	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10219623	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10219645	0.83[ASN][1000 genomes]
rs10467101	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs10783234	0.83[ASN][1000 genomes]
rs10875724	0.93[JPT][hapmap]
rs10875725	0.93[GIH][hapmap];1.00[JPT][hapmap]
rs10875732	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs10875735	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs10875736	0.82[EUR][1000 genomes]
rs10875737	0.83[EUR][1000 genomes]
rs10875738	0.85[EUR][1000 genomes]
rs10875740	0.85[EUR][1000 genomes]
rs10875745	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10875746	0.94[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10875747	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875748	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875750	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10875756	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875762	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10875764	0.84[ASN][1000 genomes]
rs10875767	0.88[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs10875770	0.89[CHB][hapmap];0.88[CHD][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs10875772	0.89[CHB][hapmap];0.88[CHD][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap]
rs10875792	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs10875793	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs11168355	1.00[GIH][hapmap];0.83[TSI][hapmap];0.82[YRI][hapmap]
rs11168357	0.96[GIH][hapmap];0.93[JPT][hapmap];0.83[TSI][hapmap];0.82[YRI][hapmap]
rs11168369	0.86[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11168371	0.93[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap]
rs11168383	0.82[EUR][1000 genomes]
rs11168386	0.82[EUR][1000 genomes]
rs11168401	0.85[EUR][1000 genomes]
rs11168403	0.85[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11168413	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11168414	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168415	0.87[ASN][1000 genomes]
rs11168416	0.87[ASN][1000 genomes]
rs11168418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168420	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168421	0.94[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11168422	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168425	0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11168427	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11168450	0.94[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11168459	0.89[CHB][hapmap];0.88[CHD][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs11168516	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs11558768	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12228854	0.82[YRI][hapmap]
rs12297004	0.81[EUR][1000 genomes]
rs12297470	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.92[ASN][1000 genomes]
rs12301339	0.89[CEU][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs12304476	0.84[ASW][hapmap];0.93[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs12305182	0.93[JPT][hapmap]
rs12305511	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12305647	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12306290	0.84[ASN][1000 genomes]
rs12306451	0.84[ASW][hapmap];0.93[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs12310813	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.92[ASN][1000 genomes]
rs12311953	0.80[EUR][1000 genomes]
rs12312134	1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12313300	0.82[EUR][1000 genomes]
rs12313404	0.84[EUR][1000 genomes]
rs12315625	0.83[EUR][1000 genomes]
rs1471997	0.86[JPT][hapmap]
rs17122620	0.82[EUR][1000 genomes]
rs17122666	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17122812	0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs1859445	1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[ASN][1000 genomes]
rs2012773	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2079295	0.93[JPT][hapmap]
rs2107638	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2158516	0.85[EUR][1000 genomes]
rs2228500	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2269933	0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2269935	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2269936	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2279464	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs2286021	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2634675	0.87[JPT][hapmap]
rs2732439	0.87[JPT][hapmap]
rs2732465	0.87[JPT][hapmap]
rs3185921	0.87[JPT][hapmap]
rs3751273	0.87[JPT][hapmap]
rs3782910	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs3782911	0.85[EUR][1000 genomes]
rs3809322	0.82[YRI][hapmap]
rs4760609	1.00[GIH][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs4760619	0.87[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4760622	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4760680	0.82[EUR][1000 genomes]
rs4760681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760684	0.87[ASN][1000 genomes]
rs4760687	0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4760689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760690	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760695	0.84[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4760696	0.94[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4760697	0.94[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs58952582	0.82[EUR][1000 genomes]
rs60106007	0.87[ASN][1000 genomes]
rs60761335	0.82[EUR][1000 genomes]
rs61343568	0.81[ASN][1000 genomes]
rs61918806	0.84[EUR][1000 genomes]
rs61918809	0.83[EUR][1000 genomes]
rs61918810	0.85[EUR][1000 genomes]
rs61940962	0.81[ASN][1000 genomes]
rs6580659	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7135779	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs719008	0.93[JPT][hapmap]
rs725454	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7299135	0.93[JPT][hapmap]
rs7299271	0.93[JPT][hapmap]
rs73102065	0.85[EUR][1000 genomes]
rs73102067	0.80[EUR][1000 genomes]
rs7485355	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7486424	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs8804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs886588	0.84[ASW][hapmap];0.93[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs9634261	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs989144	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs11168433	ASB8	cis	parietal	SCAN
rs11168433	RP1-228P16.1	cis	Artery Tibial	GTEx
rs11168433	ASB8	cis	cerebellum	SCAN
rs11168433	RP1-228P16.1	cis	Adipose Subcutaneous	GTEx
rs11168433	LOC255411	cis	cerebellum	SCAN
rs11168433	LMBR1L	cis	cerebellum	SCAN
rs11168433	SENP1	cis	cerebellum	SCAN
rs11168433	H1FNT	cis	cerebellum	SCAN
rs11168433	RP1-228P16.1	cis	Heart Left Ventricle	GTEx
rs11168433	SENP1	cis	parietal	SCAN
rs11168433	RP1-228P16.1	cis	Skin Sun Exposed Lower leg	GTEx
rs11168433	PRKAG1	cis	parietal	SCAN
rs11168433	RP1-228P16.1	cis	Thyroid	GTEx
rs11168433	FAM186B	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48554800-48558200	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:48555000-48558200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:48557000-48559200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:48557200-48558400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr12:48557200-48559000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:48557400-48559000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr12:48557800-48558800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:48558000-48558600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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