Variant report

Variant	rs11185944
Chromosome Location	chr10:91741947-91741948
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10785927	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10785930	1.00[ASN][1000 genomes]
rs10881718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1111716	1.00[ASN][1000 genomes]
rs1113984	1.00[ASN][1000 genomes]
rs1274129	1.00[ASN][1000 genomes]
rs1274131	1.00[ASN][1000 genomes]
rs1274132	1.00[ASN][1000 genomes]
rs1274135	1.00[ASN][1000 genomes]
rs1274137	1.00[ASN][1000 genomes]
rs1274139	1.00[ASN][1000 genomes]
rs1274140	1.00[ASN][1000 genomes]
rs1274141	1.00[ASN][1000 genomes]
rs1274142	1.00[ASN][1000 genomes]
rs1274172	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1274174	1.00[ASN][1000 genomes]
rs1274177	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1296513	1.00[ASN][1000 genomes]
rs1343365	1.00[ASN][1000 genomes]
rs1555825	1.00[ASN][1000 genomes]
rs1748492	1.00[ASN][1000 genomes]
rs1748493	1.00[ASN][1000 genomes]
rs1748495	1.00[ASN][1000 genomes]
rs1777954	1.00[ASN][1000 genomes]
rs1777955	1.00[ASN][1000 genomes]
rs1954410	1.00[ASN][1000 genomes]
rs2419351	1.00[ASN][1000 genomes]
rs2763324	1.00[ASN][1000 genomes]
rs2763333	1.00[ASN][1000 genomes]
rs2798613	1.00[ASN][1000 genomes]
rs2798620	1.00[ASN][1000 genomes]
rs4288675	1.00[ASN][1000 genomes]
rs4301707	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4933167	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4933534	1.00[ASN][1000 genomes]
rs6583667	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6583671	1.00[ASN][1000 genomes]
rs67801980	1.00[ASN][1000 genomes]
rs67876331	1.00[ASN][1000 genomes]
rs7092902	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7094046	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72820721	1.00[ASN][1000 genomes]
rs72820722	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043571	chr10:91568555-92036154	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv551874	chr10:91570211-92036154	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv949678	chr10:91589048-92016474	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv895883	chr10:91610601-92195828	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1039731	chr10:91645718-92198264	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv540743	chr10:91645718-92198264	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv467430	chr10:91681344-92297943	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv551875	chr10:91681344-92297943	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1048021	chr10:91703053-91748404	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11185944	CYP26C1	cis	parietal	SCAN
rs11185944	IFIT1	cis	lymphoblastoid	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91739600-91742600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:91739800-91743000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr10:91741200-91742800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr10:91741400-91742000	Enhancers	HMEC	breast
5	chr10:91741600-91742000	Enhancers	Aorta	Aorta
6	chr10:91741600-91742200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:91741600-91742800	Enhancers	NHEK	skin

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