Variant report

Variant	rs1823263
Chromosome Location	chr5:49945232-49945233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10035164	1.00[CHB][hapmap]
rs10036060	1.00[CHB][hapmap]
rs10044566	1.00[CHB][hapmap]
rs10053011	1.00[CHB][hapmap]
rs10054381	1.00[CHB][hapmap]
rs10056836	1.00[CHB][hapmap]
rs10059085	1.00[CHB][hapmap]
rs10075034	1.00[CHB][hapmap]
rs10085036	1.00[CHB][hapmap]
rs10755235	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10940497	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11739201	0.80[AFR][1000 genomes]
rs11750771	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12188262	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12188654	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.81[ASN][1000 genomes]
rs12651837	0.81[AFR][1000 genomes]
rs12652605	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs154137	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs154138	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs16884018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs169497	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs182230	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1839128	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1972980	0.81[ASN][1000 genomes]
rs2354525	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2354526	0.89[ASN][1000 genomes]
rs2548581	0.85[CHB][hapmap]
rs2548582	1.00[JPT][hapmap]
rs256340	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs256341	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2594706	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs26062	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26065	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26069	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26071	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs27389	1.00[CHB][hapmap]
rs27466	0.84[CEU][hapmap];0.82[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs27467	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs27468	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs27469	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs27627	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs282545	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs282550	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs282553	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs282561	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs32376	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs32404	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs32425	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3763367	0.81[ASN][1000 genomes]
rs39613	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs42284	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4440312	0.81[ASN][1000 genomes]
rs4865628	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs57079776	0.81[ASN][1000 genomes]
rs62366906	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62366907	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6450301	0.89[ASN][1000 genomes]
rs6868550	0.81[ASN][1000 genomes]
rs6872496	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs6873522	0.83[AFR][1000 genomes]
rs6890519	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6890869	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7705837	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7721050	0.81[ASN][1000 genomes]
rs7728975	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1022067	chr5:49584188-49960083	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv537758	chr5:49584188-49960083	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv2757995	chr5:49748352-50058182	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv2759342	chr5:49748352-50058182	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv16870	chr5:49885849-49989415	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv980790	chr5:49934158-49945480	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1823263	PARP8	Cis_1M	lymphoblastoid	RTeQTL
rs1823263	LOC647121	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49942400-49946000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:49944400-49946800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr5:49944400-49949200	Weak transcription	Primary B cells from cord blood	blood
4	chr5:49944400-49949400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr5:49944400-49949600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:49944600-49949600	Weak transcription	Primary T cells from cord blood	blood
7	chr5:49944600-49949600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:49944600-49949800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:49944800-49946800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:49944800-49949400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:49944800-49949600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:49945000-49945600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:49945000-49949400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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