Variant report

Variant	rs2763321
Chromosome Location	chr10:28458902-28458903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10508736	0.82[CHB][hapmap]
rs10740785	0.85[CHB][hapmap]
rs10763646	0.82[CHB][hapmap]
rs10763647	0.81[CHB][hapmap]
rs10763648	0.82[CHB][hapmap]
rs10763649	0.82[CHB][hapmap]
rs10763650	0.82[CHB][hapmap]
rs10826407	0.91[ASN][1000 genomes]
rs10826408	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10826421	0.81[JPT][hapmap]
rs10826424	0.85[CHB][hapmap]
rs11006896	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs11006897	0.95[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs11006902	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11006903	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11006917	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs11006920	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs12049636	0.82[CHB][hapmap]
rs12251924	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12254584	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12255686	0.85[CHB][hapmap]
rs12259869	0.97[ASN][1000 genomes]
rs12261363	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12264184	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12268470	1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs12766231	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1626856	0.81[JPT][hapmap]
rs1748483	0.81[JPT][hapmap]
rs1937807	0.81[CHB][hapmap];0.83[TSI][hapmap]
rs1937808	0.86[CHB][hapmap];0.83[TSI][hapmap]
rs1937809	0.82[CHB][hapmap];0.83[TSI][hapmap]
rs2607539	0.81[CHB][hapmap]
rs2763316	0.81[JPT][hapmap]
rs2763317	0.84[JPT][hapmap]
rs2801835	0.82[CHB][hapmap]
rs2985522	0.81[JPT][hapmap]
rs2985532	0.81[JPT][hapmap]
rs2985535	0.82[CHB][hapmap];0.83[TSI][hapmap]
rs2997202	0.95[ASN][1000 genomes]
rs2997210	0.82[CHB][hapmap];0.83[TSI][hapmap]
rs4408232	0.86[ASN][1000 genomes]
rs4747615	0.88[ASN][1000 genomes]
rs4749310	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4749311	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4749313	0.97[ASN][1000 genomes]
rs58368296	0.93[ASN][1000 genomes]
rs7081378	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7085245	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7096944	0.82[CHB][hapmap];0.83[TSI][hapmap]
rs7097357	0.96[ASN][1000 genomes]
rs7101051	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7893311	0.82[CHB][hapmap]
rs9663596	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1042524	chr10:28290149-28506812	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831816	chr10:28304698-28493635	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv525448	chr10:28337570-28563732	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv831817	chr10:28369836-28539930	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1848511	chr10:28373644-28464753	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1041555	chr10:28419399-29304934	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv1037863	chr10:28419399-29378871	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv540521	chr10:28419399-29378871	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	esv20645	chr10:28458298-28460090	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv521787	chr10:28458902-28464753	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2763321	PTCHD3	cis	parietal	SCAN
rs2763321	MPP7	cis	parietal	SCAN
rs2763321	MYO3A	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28439000-28466600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr10:28439000-28467000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr10:28439200-28466600	Weak transcription	Primary T cells from cord blood	blood
4	chr10:28443800-28460200	Weak transcription	Colon Smooth Muscle	Colon
5	chr10:28449800-28497000	Weak transcription	Fetal Intestine Small	intestine
6	chr10:28452200-28467000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr10:28458400-28460400	Weak transcription	Aorta	Aorta
8	chr10:28458600-28459000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr10:28458800-28466400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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