Variant report

Variant	rs6493363
Chromosome Location	chr15:49643919-49643920
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	chr15:49639583..49641863-chr15:49642641..49645261,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10467992	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10851475	0.88[CEU][hapmap];0.80[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10851476	0.81[CHB][hapmap];0.80[CHD][hapmap];0.90[JPT][hapmap]
rs11070687	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs11070692	0.92[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap]
rs11632063	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11854667	0.81[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]
rs11858114	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12439429	0.80[CHB][hapmap]
rs12909779	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs12916840	0.90[JPT][hapmap]
rs1429556	0.92[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap]
rs16962440	0.80[CHB][hapmap]
rs1812926	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1816293	0.90[JPT][hapmap]
rs1904314	0.87[EUR][1000 genomes]
rs1904316	0.80[CHB][hapmap]
rs1904317	0.82[ASW][hapmap];0.95[GIH][hapmap]
rs2086256	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2127241	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2127242	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2127244	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2163095	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs2163096	0.80[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]
rs2169932	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2219812	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2413935	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs2413937	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2413942	0.84[YRI][hapmap]
rs2457228	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs2580926	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2663088	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28479967	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28728368	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2899430	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2919148	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3098614	0.90[GIH][hapmap]
rs3098615	0.81[EUR][1000 genomes]
rs3098620	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3105861	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs3105865	0.83[ASW][hapmap];0.92[GIH][hapmap]
rs4316697	0.92[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap]
rs4421927	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs4775804	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4775805	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4775807	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4775809	0.85[EUR][1000 genomes]
rs500122	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs520949	0.95[GIH][hapmap]
rs568726	0.90[CHB][hapmap]
rs586758	0.83[ASW][hapmap];0.92[GIH][hapmap]
rs626855	0.90[CHB][hapmap]
rs641077	0.83[ASW][hapmap];0.92[GIH][hapmap]
rs647118	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[YRI][hapmap]
rs6493361	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs685172	0.90[CHB][hapmap]
rs7162360	0.80[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]
rs7167555	0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7168201	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs7176455	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7179237	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs735495	0.88[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs754165	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs754166	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8024102	0.80[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]
rs8025952	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8032650	0.95[GIH][hapmap]
rs8034661	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8034747	0.92[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs8040075	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs919447	0.80[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]
rs9806748	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs981612	0.90[JPT][hapmap]

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	nsv1039220	chr15:49492509-49644261	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6493363	DTWD1	cis	cerebellum	SCAN
rs6493363	SPATA5L1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49623200-49646000	Weak transcription	Left Ventricle	heart
2	chr15:49623400-49647600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:49636200-49645200	Weak transcription	HUVEC	blood vessel
4	chr15:49637600-49644000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr15:49643000-49644600	ZNF genes & repeats	Aorta	Aorta

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