Variant report

Variant	rs11050743
Chromosome Location	chr12:30405704-30405705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10843678	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843679	0.86[AMR][1000 genomes]
rs10843682	0.85[AMR][1000 genomes]
rs10843683	0.85[AMR][1000 genomes]
rs10843685	0.83[AMR][1000 genomes]
rs11050728	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050746	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050748	0.85[AMR][1000 genomes]
rs11050749	0.85[AMR][1000 genomes]
rs11050751	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050753	0.83[AMR][1000 genomes]
rs11050755	0.83[AMR][1000 genomes]
rs11050756	0.83[AMR][1000 genomes]
rs11050764	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11050765	0.88[ASN][1000 genomes]
rs1114543	0.85[AMR][1000 genomes]
rs12424849	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1485419	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1652148	0.88[AMR][1000 genomes]
rs1652152	0.81[AMR][1000 genomes]
rs1652153	0.88[AMR][1000 genomes]
rs1652154	0.88[AMR][1000 genomes]
rs1731485	0.88[AMR][1000 genomes]
rs1731487	0.85[AMR][1000 genomes]
rs1731488	0.85[AMR][1000 genomes]
rs1731512	0.85[AMR][1000 genomes]
rs1731513	0.88[AMR][1000 genomes]
rs1731514	0.88[AMR][1000 genomes]
rs17522050	0.85[AMR][1000 genomes]
rs1820886	0.85[AMR][1000 genomes]
rs1825526	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1835255	0.83[AMR][1000 genomes]
rs2082063	0.83[AMR][1000 genomes]
rs2082064	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2564552	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34426025	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4031705	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4457837	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4931303	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4931304	0.85[AMR][1000 genomes]
rs4931306	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs59708543	0.85[AMR][1000 genomes]
rs61015779	0.87[ASN][1000 genomes]
rs765116	0.85[AMR][1000 genomes]
rs765117	0.88[AMR][1000 genomes]
rs765118	0.86[AMR][1000 genomes]
rs765119	0.85[AMR][1000 genomes]
rs7959978	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7960086	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7974720	0.91[AMR][1000 genomes];0.84[EUR][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	nsv821695	chr12:30287314-30450174	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv516421	chr12:30309076-30411299	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1044929	chr12:30318488-30409475	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1039081	chr12:30320388-30410076	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1050136	chr12:30320549-30415565	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541437	chr12:30320549-30415565	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1050921	chr12:30334940-30409475	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv430465	chr12:30377630-30422833	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1048944	chr12:30380541-30411087	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv1036958	chr12:30383022-30411087	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1054577	chr12:30391221-30409749	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv430466	chr12:30391221-30411062	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv1037656	chr12:30391221-30411087	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1048100	chr12:30396532-30409810	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv1054606	chr12:30397029-30411087	Enhancers Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11050743	CCDC91	cis	parietal	SCAN
rs11050743	PTHLH	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30404800-30410200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:30405200-30410200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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