Variant report

Variant	rs295532
Chromosome Location	chr5:60395288-60395289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60385727..60388209-chr5:60393407..60396007,2	K562	blood:
2	chr5:60388764..60392434-chr5:60393819..60396676,3	K562	blood:
3	chr5:60393939..60398083-chr5:60399417..60401955,3	K562	blood:
4	chr5:60393939..60396673-chr5:60399417..60401955,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10064187	0.81[ASN][1000 genomes]
rs10471502	0.98[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs10939882	0.85[EUR][1000 genomes]
rs11951076	0.84[EUR][1000 genomes]
rs11957772	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs124898	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12518865	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13168191	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13171576	0.85[EUR][1000 genomes]
rs1382914	0.86[EUR][1000 genomes]
rs158564	0.89[EUR][1000 genomes]
rs158570	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs158571	0.84[EUR][1000 genomes]
rs158915	0.85[EUR][1000 genomes]
rs158919	0.85[EUR][1000 genomes]
rs158923	0.86[EUR][1000 genomes]
rs158924	0.86[EUR][1000 genomes]
rs158927	0.81[ASN][1000 genomes]
rs158929	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs158931	0.85[EUR][1000 genomes]
rs158932	0.84[EUR][1000 genomes]
rs158933	0.84[EUR][1000 genomes]
rs158934	0.84[EUR][1000 genomes]
rs158935	0.84[EUR][1000 genomes]
rs158936	0.84[EUR][1000 genomes]
rs159357	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs159358	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs159371	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs159374	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs159375	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs159376	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs159377	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs159378	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs159380	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs159537	0.84[EUR][1000 genomes]
rs162228	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs162234	0.89[EUR][1000 genomes]
rs162238	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs162241	0.87[EUR][1000 genomes]
rs162242	0.89[EUR][1000 genomes]
rs162244	0.88[EUR][1000 genomes]
rs162247	0.87[EUR][1000 genomes]
rs162248	0.86[EUR][1000 genomes]
rs172348	0.86[EUR][1000 genomes]
rs172945	0.88[EUR][1000 genomes]
rs182410	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs185354	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs187459	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2080869	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2112365	0.85[EUR][1000 genomes]
rs2120955	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2263514	0.86[EUR][1000 genomes]
rs248677	0.93[EUR][1000 genomes]
rs248682	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs248683	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs248685	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2545475	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2545478	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2545503	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs256375	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs256376	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2650512	0.86[EUR][1000 genomes]
rs2650517	0.86[EUR][1000 genomes]
rs2694518	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2694530	0.86[EUR][1000 genomes]
rs2694531	0.86[EUR][1000 genomes]
rs28407266	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs290503	0.88[EUR][1000 genomes]
rs290506	0.88[EUR][1000 genomes]
rs290507	0.88[EUR][1000 genomes]
rs290514	0.81[ASN][1000 genomes]
rs290515	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs290516	0.84[EUR][1000 genomes]
rs2950235	0.86[EUR][1000 genomes]
rs295522	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs295524	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs295531	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs295533	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs295551	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs295559	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs295560	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs295561	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs295563	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs295564	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs295566	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs295569	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs295573	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs295578	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs295579	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs295582	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs298629	0.84[EUR][1000 genomes]
rs3108388	0.87[EUR][1000 genomes]
rs329622	0.88[EUR][1000 genomes]
rs329623	0.88[EUR][1000 genomes]
rs329625	0.88[EUR][1000 genomes]
rs329626	0.86[EUR][1000 genomes]
rs34593	0.92[EUR][1000 genomes]
rs34609	0.84[EUR][1000 genomes]
rs34610	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs34613	0.84[EUR][1000 genomes]
rs34614	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34616	0.84[EUR][1000 genomes]
rs34617	0.84[EUR][1000 genomes]
rs34621	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34623	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34624	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34625	0.85[EUR][1000 genomes]
rs34636	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34637	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34639	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34644	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs39661	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs40084	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs40421	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4141502	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4699969	0.85[EUR][1000 genomes]
rs4700406	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56409036	0.87[EUR][1000 genomes]
rs6868884	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6869073	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6878124	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6886481	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs723276	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7701839	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7706753	0.84[EUR][1000 genomes]
rs810883	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs810884	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs976581	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1019307	chr5:60295350-60409077	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv598314	chr5:60374912-60459040	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs295532	ERCC8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60326000-60400800	Weak transcription	Left Ventricle	heart
2	chr5:60350800-60396200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:60366400-60397400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:60367400-60399400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:60367600-60398400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:60367800-60403800	Weak transcription	Primary B cells from cord blood	blood
7	chr5:60368200-60397600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:60368200-60402000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:60369000-60400200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:60369800-60396400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:60370200-60395600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:60371600-60398000	Weak transcription	HSMM	muscle
13	chr5:60373200-60395600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:60378800-60395600	Weak transcription	Primary T cells from cord blood	blood
15	chr5:60378800-60403400	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:60379400-60395600	Weak transcription	Ovary	ovary
17	chr5:60379400-60403000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:60381000-60419400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:60381400-60397600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:60383000-60395600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:60387200-60395600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:60387800-60395600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:60387800-60396200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:60388200-60399200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:60388400-60401400	Weak transcription	Fetal Intestine Large	intestine
26	chr5:60389600-60396200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:60390800-60398800	Weak transcription	Psoas Muscle	Psoas
28	chr5:60391800-60396000	Weak transcription	Fetal Intestine Small	intestine
29	chr5:60392600-60395600	Weak transcription	HepG2	liver
30	chr5:60392800-60397800	Weak transcription	GM12878-XiMat	blood
31	chr5:60393000-60404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:60393600-60396800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:60394000-60399800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr5:60394200-60405000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:60394400-60396000	Weak transcription	Osteobl	bone
36	chr5:60394400-60400400	Weak transcription	NHDF-Ad	bronchial
37	chr5:60394400-60404400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr5:60394400-60415400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:60394600-60395600	Weak transcription	K562	blood
40	chr5:60394600-60399200	Weak transcription	NHEK	skin
41	chr5:60395000-60395400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:60395000-60400000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:60395000-60400600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:60395200-60395600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr5:60395200-60402000	Weak transcription	Small Intestine	intestine

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