Variant report

Variant	rs9493443
Chromosome Location	chr6:133121349-133121350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:133080844..133083243-chr6:133120275..133122727,2	K562	blood:
2	chr6:133119880..133121448-chr6:133122542..133124062,2	MCF-7	breast:
3	chr6:133084618..133086907-chr6:133118822..133121566,2	K562	blood:
4	chr6:133117688..133126502-chr6:133133829..133139054,19	MCF-7	breast:
5	chr6:133118544..133124606-chr6:133132137..133138834,13	MCF-7	breast:
6	chr6:132832611..132834291-chr6:133118787..133121672,2	K562	blood:

Variant related genes	Relation type
ENSG00000221500	Chromatin interaction
ENSG00000271488	Chromatin interaction
ENSG00000206754	Chromatin interaction
ENSG00000112306	Chromatin interaction
ENSG00000200534	Chromatin interaction
ENSG00000079950	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10457596	0.91[ASN][1000 genomes]
rs10484629	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11962883	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11964512	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11965927	0.82[AFR][1000 genomes]
rs12198849	0.91[ASN][1000 genomes]
rs12203977	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204027	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211701	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1467403	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1467404	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3736725	0.82[AFR][1000 genomes]
rs3813347	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58832890	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59716502	0.82[AFR][1000 genomes]
rs60631157	0.82[AFR][1000 genomes]
rs61421874	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62424539	0.91[ASN][1000 genomes]
rs6569847	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6569848	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6910639	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6912936	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6915168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926101	0.83[AFR][1000 genomes]
rs6934161	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73554431	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738071	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7744961	0.81[AFR][1000 genomes]
rs7758703	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7759524	0.81[AFR][1000 genomes]
rs7761207	0.84[AFR][1000 genomes]
rs7761365	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7765224	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7769051	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7770081	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7775241	0.84[AFR][1000 genomes]
rs9321367	0.91[ASN][1000 genomes]
rs9321371	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9399041	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493435	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493437	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493438	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493444	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493445	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493446	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493454	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9493443	C6orf192	Cis_1M	lymphoblastoid	RTeQTL
rs9493443	C6orf192	cis	multi-tissue	Pritchard

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133120400-133126200	Weak transcription	Fetal Heart	heart
2	chr6:133120600-133121400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr6:133120600-133121400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr6:133120600-133121400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr6:133120600-133121600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr6:133120800-133121400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr6:133120800-133134000	Weak transcription	Pancreas	Pancrea
8	chr6:133121200-133122400	Weak transcription	K562	blood
9	chr6:133121200-133128000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:133121200-133129000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:133121200-133133600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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