Variant report

Variant	rs12192367
Chromosome Location	chrX:104757540-104757541
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10484627	0.83[CHB][hapmap]
rs10948183	0.95[CHB][hapmap]
rs10948185	0.89[CHB][hapmap]
rs10948186	0.89[CHB][hapmap]
rs10948187	0.94[CHB][hapmap]
rs10948188	0.88[CHB][hapmap]
rs12190136	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12190513	0.95[CHB][hapmap]
rs12196818	0.89[CHB][hapmap]
rs12197593	0.88[AFR][1000 genomes]
rs12208621	0.85[AFR][1000 genomes]
rs12214778	0.89[CHB][hapmap]
rs12215181	0.85[AFR][1000 genomes]
rs12525009	0.84[CHB][hapmap]
rs12526711	0.83[CHB][hapmap]
rs1293457	0.96[ASN][1000 genomes]
rs1293467	0.96[ASN][1000 genomes]
rs13215618	1.00[CHB][hapmap]
rs13216116	0.89[CHB][hapmap]
rs1342370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1521355	0.89[CHB][hapmap]
rs1557143	0.96[ASN][1000 genomes]
rs17422760	0.83[CHB][hapmap]
rs1891411	0.96[ASN][1000 genomes]
rs1891412	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1935551	0.95[ASN][1000 genomes]
rs1980265	0.94[CHB][hapmap]
rs2038555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2038556	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227849	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227852	0.83[JPT][hapmap]
rs227853	0.83[JPT][hapmap]
rs3778507	0.94[CHB][hapmap]
rs3799967	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs3799968	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs3799971	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs3799973	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs3799976	0.89[CHB][hapmap]
rs3799977	0.89[CHB][hapmap]
rs3799979	0.89[CHB][hapmap]
rs3799981	0.89[CHB][hapmap]
rs3799984	0.89[CHB][hapmap]
rs3799986	0.89[CHB][hapmap]
rs3846896	0.81[ASN][1000 genomes]
rs4512220	0.80[CHB][hapmap]
rs4711798	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711799	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4711807	0.89[CHB][hapmap]
rs4714812	0.89[JPT][hapmap]
rs4714819	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4714820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4714821	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4714822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714828	0.89[CHB][hapmap]
rs494982	0.94[CHB][hapmap]
rs538801	0.89[CHB][hapmap]
rs59881382	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs608941	0.89[CHB][hapmap]
rs636845	0.94[CHB][hapmap]
rs6458415	0.95[CHB][hapmap]
rs6904015	1.00[CHB][hapmap];0.83[JPT][hapmap];0.95[ASN][1000 genomes]
rs6910294	0.95[CHB][hapmap];0.94[ASN][1000 genomes]
rs6910749	0.96[ASN][1000 genomes]
rs71564699	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs764396	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs764397	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7749865	0.89[CHB][hapmap]
rs7754378	0.94[CHB][hapmap]
rs7754698	1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[ASN][1000 genomes]
rs7763421	0.80[CHB][hapmap]
rs929614	0.96[ASN][1000 genomes]
rs9357459	0.96[ASN][1000 genomes]
rs9367208	0.83[ASN][1000 genomes]
rs9369512	0.96[ASN][1000 genomes]
rs9369513	0.95[ASN][1000 genomes]
rs9369514	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs9369516	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs9395049	0.94[CHB][hapmap];0.93[ASN][1000 genomes]
rs9395051	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs9395055	0.80[ASN][1000 genomes]
rs9472331	0.89[JPT][hapmap]
rs9472336	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9472339	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9472360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472407	0.94[CHB][hapmap]
rs9472409	0.94[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432352	chrX:104346855-104831855	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12192367	SUPT3H	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:104747800-104758200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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