Variant report

Variant	rs13159505
Chromosome Location	chr5:50038770-50038771
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10512906	0.89[ASN][1000 genomes]
rs1125916	0.82[ASN][1000 genomes]
rs11747930	0.86[ASN][1000 genomes]
rs11950328	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12653772	0.89[ASN][1000 genomes]
rs12654329	0.89[ASN][1000 genomes]
rs12654399	0.86[ASN][1000 genomes]
rs13162945	0.91[ASN][1000 genomes]
rs13166556	0.89[ASN][1000 genomes]
rs166863	0.81[ASN][1000 genomes]
rs16877029	0.85[ASN][1000 genomes]
rs16885842	0.85[ASN][1000 genomes]
rs1993955	0.89[ASN][1000 genomes]
rs282560	0.81[ASN][1000 genomes]
rs34241669	0.94[ASN][1000 genomes]
rs34389644	0.93[ASN][1000 genomes]
rs34428476	0.89[ASN][1000 genomes]
rs34674487	0.89[ASN][1000 genomes]
rs35328303	0.91[ASN][1000 genomes]
rs35571312	0.93[ASN][1000 genomes]
rs3806887	0.86[ASN][1000 genomes]
rs3806889	0.86[ASN][1000 genomes]
rs61479216	0.91[ASN][1000 genomes]
rs62365481	0.86[ASN][1000 genomes]
rs62366945	0.89[ASN][1000 genomes]
rs62368285	0.90[ASN][1000 genomes]
rs67151831	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	nsv1030068	chr5:49986171-50047352	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv537760	chr5:49986171-50047352	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv462162	chr5:49989701-50040778	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv598111	chr5:49989701-50040778	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	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
21	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
22	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
23	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
24	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
25	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13159505	PARP8	cis	Adipose Subcutaneous	GTEx
rs13159505	C21orf99	trans	lymphoblastoid	RTeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50023400-50040200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:50024000-50040000	Weak transcription	Small Intestine	intestine
3	chr5:50026600-50038800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:50027000-50040000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:50030400-50040000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:50031200-50040200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:50033000-50039800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:50033200-50038800	Weak transcription	Thymus	Thymus
9	chr5:50033200-50040400	Weak transcription	Ovary	ovary
10	chr5:50034400-50040000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:50034600-50038800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:50035000-50038800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:50035000-50040200	Weak transcription	Fetal Intestine Small	intestine
14	chr5:50035000-50040200	Weak transcription	Stomach Mucosa	stomach
15	chr5:50035000-50041200	Weak transcription	Gastric	stomach
16	chr5:50035000-50041400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:50035200-50038800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:50035200-50039000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:50035200-50039000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:50036200-50040000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr5:50036600-50040000	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:50036600-50040400	Weak transcription	Primary B cells from cord blood	blood
23	chr5:50036800-50040200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:50037000-50039800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:50037200-50039000	Enhancers	Dnd41	blood
26	chr5:50037400-50039200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr5:50037800-50039800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr5:50037800-50040000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr5:50038000-50040000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr5:50038200-50039200	Enhancers	Primary T cells from cord blood	blood
31	chr5:50038200-50039400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:50038200-50039400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr5:50038200-50039800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr5:50038200-50040000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr5:50038200-50040000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:50038200-50040400	Weak transcription	Right Atrium	heart
37	chr5:50038400-50039400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr5:50038400-50039400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:50038400-50039600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:50038600-50039000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr5:50038600-50039000	Genic enhancers	GM12878-XiMat	blood
42	chr5:50038600-50039200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr5:50038600-50039400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:50038600-50039600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:50038600-50040000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr5:50038600-50040200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:50038600-50040800	Enhancers	Primary B cells from peripheral blood	blood
48	chr5:50038600-50041400	Enhancers	Fetal Thymus	thymus

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