Variant report

Variant	rs35703604
Chromosome Location	chr5:49683075-49683076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs13154127	0.86[EUR][1000 genomes]
rs13154421	0.82[EUR][1000 genomes]
rs13158256	0.82[EUR][1000 genomes]
rs13165145	0.86[EUR][1000 genomes]
rs13169411	0.82[EUR][1000 genomes]
rs13182255	0.85[EUR][1000 genomes]
rs13185634	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13189140	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17192300	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17192503	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17800685	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1962207	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34107321	0.86[EUR][1000 genomes]
rs34205014	0.83[EUR][1000 genomes]
rs34434894	0.84[EUR][1000 genomes]
rs34573392	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34836131	0.85[EUR][1000 genomes]
rs34982640	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35005767	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35220247	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35290633	0.86[EUR][1000 genomes]
rs35319490	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35647517	0.82[EUR][1000 genomes]
rs35831659	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35971576	0.83[EUR][1000 genomes]
rs36108557	0.86[AFR][1000 genomes]
rs3860733	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61133464	0.82[EUR][1000 genomes]
rs6893317	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71631455	0.86[EUR][1000 genomes]
rs71631457	0.86[EUR][1000 genomes]
rs71631459	0.86[EUR][1000 genomes]
rs71631461	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71631463	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71631464	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71631467	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7709512	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7732891	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019539	chr5:49455624-49702736	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1023402	chr5:49455624-49708458	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1032003	chr5:49455624-49881491	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1023981	chr5:49584188-49871537	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv537757	chr5:49584188-49871537	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	nsv916441	chr5:49584313-49831223	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35703604	PARP8	Cis_1M	lymphoblastoid	RTeQTL
rs35703604	LOC647121	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49661200-49683400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr5:49665800-49685000	Weak transcription	Spleen	Spleen
3	chr5:49670600-49683800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:49672600-49693800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr5:49675400-49694000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:49676200-49693800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:49676600-49694200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:49678600-49683400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:49680600-49690000	Weak transcription	HMEC	breast
10	chr5:49681400-49685000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr5:49681600-49684200	Strong transcription	Primary T cells from cord blood	blood
12	chr5:49681600-49694000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr5:49681800-49684200	Weak transcription	Right Atrium	heart
14	chr5:49681800-49684800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:49681800-49685000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:49681800-49697200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:49682000-49685000	Weak transcription	Thymus	Thymus
18	chr5:49682000-49719000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:49682200-49684200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:49682200-49685200	Strong transcription	Dnd41	blood
21	chr5:49682600-49683600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:49682800-49683200	Enhancers	Primary B cells from peripheral blood	blood
23	chr5:49682800-49683600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:49682800-49683600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:49682800-49683600	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr5:49682800-49685200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr5:49682800-49685200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:49683000-49683200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr5:49683000-49683200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:49683000-49683400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:49683000-49683600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr5:49683000-49685000	Strong transcription	Primary B cells from cord blood	blood
33	chr5:49683000-49685200	Strong transcription	Primary monocytes fromperipheralblood	blood

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