Variant report

Variant	rs4749273
Chromosome Location	chr10:28179053-28179054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:28178111..28179847-chr10:28182667..28184534,2	K562	blood:
2	chr10:28177944..28180786-chr10:28185411..28187145,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10826357	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10826358	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10826359	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10826360	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10826362	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10826363	0.95[EUR][1000 genomes]
rs10826364	0.95[EUR][1000 genomes]
rs10826365	0.95[EUR][1000 genomes]
rs10826370	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs11006756	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11006759	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11006760	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11006761	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11006762	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11006764	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11006765	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11006766	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11006767	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11006769	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs11006779	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs11492473	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11595783	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11596317	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs11816757	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12358199	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12358283	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12772278	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs1334719	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1413772	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1832005	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1889522	0.82[GIH][hapmap]
rs1970631	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2003192	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2065690	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2152018	0.92[EUR][1000 genomes]
rs2152019	0.95[CEU][hapmap];0.93[GIH][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes]
rs2184418	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2297646	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2368269	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2368271	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2368273	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2368274	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs4303140	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs4749266	0.85[CEU][hapmap]
rs4749267	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4749274	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs4749275	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4749276	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4749277	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4749278	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4749279	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4749280	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6481484	0.81[GIH][hapmap]
rs6481485	0.80[GIH][hapmap]
rs6481490	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs6481491	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs7070860	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7074562	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs7077472	0.95[EUR][1000 genomes]
rs7078534	0.81[GIH][hapmap]
rs7089040	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs7090390	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7094167	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7094542	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7095239	0.91[EUR][1000 genomes]
rs7095692	0.95[EUR][1000 genomes]
rs7096964	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7099583	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7099871	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7099876	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7100494	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7893462	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs7896951	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs7897553	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs7897889	0.95[EUR][1000 genomes]
rs7907415	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs7907500	0.86[CHB][hapmap]
rs7924172	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs880706	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs880707	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes]
rs880708	0.95[EUR][1000 genomes]
rs915175	0.81[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831813	chr10:28017606-28200651	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv971859	chr10:28070066-28271252	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv894987	chr10:28165502-28326775	ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4749273	KIAA1217	cis	parietal	SCAN
rs4749273	ZNF79	trans	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28161000-28181800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:28173600-28183400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:28176200-28180200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr10:28178400-28179200	Enhancers	Fetal Thymus	thymus
5	chr10:28178800-28188000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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