Variant report

Variant	rs282548
Chromosome Location	chr5:50056435-50056436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10471414	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10737958	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11954386	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12055210	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12153387	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12186752	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1375128	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs152001	0.93[EUR][1000 genomes]
rs154136	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs166863	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs204915	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2354533	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2404958	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2463796	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2463797	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2594708	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs26072	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs27243	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs27255	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs27598	0.92[EUR][1000 genomes]
rs27934	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs27964	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs282544	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs282547	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs282555	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs282556	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs282560	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2883460	0.80[ASN][1000 genomes]
rs32396	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36077571	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4548483	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55932149	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56670602	0.92[EUR][1000 genomes]
rs61401688	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62366908	0.82[ASN][1000 genomes]
rs62366910	0.80[ASN][1000 genomes]
rs62366941	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6450384	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6450391	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66912405	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7717033	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
4	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
5	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
6	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
7	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
8	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1016237	chr5:49986171-50118816	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv537761	chr5:49986171-50118816	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv462160	chr5:49988020-50058043	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv598109	chr5:49988020-50058043	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv598110	chr5:49988020-50089919	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv598112	chr5:49989701-50062611	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv462163	chr5:49989701-50088317	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv598113	chr5:49989701-50088317	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv598114	chr5:49991561-50088317	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv462164	chr5:50017724-50063035	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv598115	chr5:50017724-50063035	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs282548	LOC647121	Cis_1M	lymphoblastoid	RTeQTL
rs282548	PARP8	cis	Esophagus Muscularis	GTEx
rs282548	PARP8	cis	Adipose Subcutaneous	GTEx
rs282548	PARP8	cis	Thyroid	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50039200-50067200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:50040000-50069200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:50040400-50059600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:50041400-50058400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:50041400-50068800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:50041800-50057600	Weak transcription	Primary B cells from cord blood	blood
7	chr5:50041800-50069200	Weak transcription	Adipose Nuclei	Adipose
8	chr5:50041800-50070200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:50041800-50090000	Weak transcription	Small Intestine	intestine
10	chr5:50042000-50057800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:50046600-50068600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:50047000-50056600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:50047000-50057400	Weak transcription	Dnd41	blood
14	chr5:50047200-50059600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:50047400-50056600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:50047400-50058000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:50047400-50069000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:50047600-50057600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:50047800-50057800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:50047800-50069400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:50049200-50057800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:50049800-50057200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:50050000-50059600	Weak transcription	Left Ventricle	heart
24	chr5:50050600-50057400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr5:50051200-50084600	Weak transcription	NHEK	skin
26	chr5:50051600-50068800	Weak transcription	Fetal Lung	lung
27	chr5:50052000-50078000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:50052200-50067800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:50052600-50069200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:50052800-50098800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:50053000-50056800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr5:50053200-50056600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:50053200-50058200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr5:50053400-50058800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:50053800-50059400	Weak transcription	Primary T cells from cord blood	blood
36	chr5:50054200-50059800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:50054400-50056600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr5:50054400-50069400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr5:50054800-50062400	Weak transcription	HMEC	breast
40	chr5:50055600-50059800	Weak transcription	GM12878-XiMat	blood
41	chr5:50055800-50057000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:50055800-50057600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:50055800-50057600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr5:50055800-50065200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr5:50056200-50059200	Weak transcription	Liver	Liver
46	chr5:50056200-50061200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:50056200-50062400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr5:50056400-50056800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:50056400-50056800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr5:50056400-50059600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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