Variant report

Variant	rs2271236
Chromosome Location	chr5:49701755-49701756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10041033	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10042504	0.89[ASN][1000 genomes]
rs10055539	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10061339	0.83[ASN][1000 genomes]
rs10068272	0.81[EUR][1000 genomes]
rs10071725	0.85[ASN][1000 genomes]
rs10076490	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10079493	0.87[ASN][1000 genomes]
rs1010676	0.89[JPT][hapmap]
rs10214007	0.81[ASN][1000 genomes]
rs1039797	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10471362	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10471798	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10940129	0.82[EUR][1000 genomes]
rs11948752	0.83[ASN][1000 genomes]
rs11959569	0.87[ASN][1000 genomes]
rs12651909	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13155292	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13157992	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13159506	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13168063	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13172025	0.81[ASN][1000 genomes]
rs13173678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13174293	0.83[ASN][1000 genomes]
rs13180767	0.84[ASN][1000 genomes]
rs13180852	0.85[ASN][1000 genomes]
rs13182357	0.80[JPT][hapmap]
rs13185587	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13357429	0.92[ASN][1000 genomes]
rs1511735	0.81[EUR][1000 genomes]
rs1606226	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16879094	0.90[ASN][1000 genomes]
rs1811742	0.89[ASN][1000 genomes]
rs1812936	0.80[JPT][hapmap]
rs1812994	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1833900	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1849200	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1962832	0.83[ASN][1000 genomes]
rs1995795	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2036901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2036902	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2089605	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2137132	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2137134	0.87[ASN][1000 genomes]
rs2353436	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2668024	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28445612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28500170	0.91[ASN][1000 genomes]
rs28528780	0.90[ASN][1000 genomes]
rs28661824	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28676351	0.87[ASN][1000 genomes]
rs2883164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs303219	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs303231	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs303235	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs303237	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34044048	0.86[ASN][1000 genomes]
rs34044167	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34741488	0.88[ASN][1000 genomes]
rs34749302	0.88[ASN][1000 genomes]
rs34945845	0.90[ASN][1000 genomes]
rs34950042	0.81[ASN][1000 genomes]
rs36138717	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3849669	0.87[ASN][1000 genomes]
rs3849670	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3860732	0.88[ASN][1000 genomes]
rs3950451	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4029989	0.84[ASN][1000 genomes]
rs4030569	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4030570	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4030571	0.88[ASN][1000 genomes]
rs4030572	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4030573	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4031137	0.87[ASN][1000 genomes]
rs4082836	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4145844	0.81[ASN][1000 genomes]
rs4340921	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4398636	0.89[ASN][1000 genomes]
rs4495185	0.92[ASN][1000 genomes]
rs4549528	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4563580	0.83[ASN][1000 genomes]
rs4571473	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4637546	0.84[ASN][1000 genomes]
rs4865522	0.80[EUR][1000 genomes]
rs57137858	0.90[ASN][1000 genomes]
rs57583601	0.92[ASN][1000 genomes]
rs58756661	0.90[ASN][1000 genomes]
rs59254474	0.88[ASN][1000 genomes]
rs62365887	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62365896	0.92[ASN][1000 genomes]
rs62365901	0.93[ASN][1000 genomes]
rs62365902	0.90[ASN][1000 genomes]
rs62386175	0.83[ASN][1000 genomes]
rs6450056	0.83[ASN][1000 genomes]
rs6450063	0.88[ASN][1000 genomes]
rs6450098	0.92[ASN][1000 genomes]
rs6450099	0.89[ASN][1000 genomes]
rs6450107	0.90[ASN][1000 genomes]
rs6450139	0.85[ASN][1000 genomes]
rs6450164	0.83[ASN][1000 genomes]
rs6868677	0.84[ASN][1000 genomes]
rs6869871	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6874829	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7446360	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7712749	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7712849	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs7717982	0.93[ASN][1000 genomes]
rs7721808	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7732000	0.85[ASN][1000 genomes]
rs9292005	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2271236	EMB	cis	Thyroid	GTEx
rs2271236	PARP8	Cis_1M	lymphoblastoid	RTeQTL
rs2271236	LOC647121	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49682000-49719000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:49688800-49707200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:49688800-49710000	Weak transcription	Fetal Thymus	thymus
4	chr5:49690200-49723600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr5:49690400-49708600	Strong transcription	Dnd41	blood
6	chr5:49690600-49706800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:49690800-49702600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:49691000-49702400	Weak transcription	NHEK	skin
9	chr5:49691000-49702600	Weak transcription	HMEC	breast
10	chr5:49692800-49708000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:49693000-49707600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:49693400-49707000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:49694200-49707000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:49694400-49702600	Weak transcription	Fetal Intestine Large	intestine
15	chr5:49694600-49706400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:49695200-49705800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:49695600-49708400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:49697000-49723400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:49697400-49702600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr5:49697400-49723400	Weak transcription	HSMM	muscle
21	chr5:49697600-49702400	Weak transcription	Primary B cells from cord blood	blood
22	chr5:49697600-49709800	Weak transcription	Primary T cells from cord blood	blood
23	chr5:49697600-49719000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:49697600-49721600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:49698200-49702800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:49698200-49711600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:49699000-49702000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:49699400-49702800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:49699600-49702400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr5:49699800-49702000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:49699800-49702800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:49700800-49702600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr5:49701000-49702600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:49701000-49702600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr5:49701000-49702800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:49701000-49703000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr5:49701000-49705000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:49701000-49711400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:49701400-49702000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr5:49701400-49702400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr5:49701600-49702600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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