Variant report

Variant	rs2066585
Chromosome Location	chr13:50672222-50672223
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50669944..50672513-chr13:50699393..50701015,2	K562	blood:
2	chr13:50670793..50672422-chr13:50683586..50685968,2	K562	blood:
3	chr13:50671796..50673369-chr13:50676139..50678779,2	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11617754	0.86[CHB][hapmap]
rs1326120	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2066549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2066557	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2066558	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2066572	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2066575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2066587	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2066591	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2066594	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2242482	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2687950	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2687951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2740508	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2740524	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2740544	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2740545	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2760914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2803839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2812204	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2812216	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2812217	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2812222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2997624	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4942899	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4942901	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7338055	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs790943	0.86[CHB][hapmap]
rs7986337	0.82[CHB][hapmap]
rs9535407	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs9568354	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs9568357	0.86[CHB][hapmap]
rs9568363	0.91[AMR][1000 genomes]
rs9568364	0.91[AMR][1000 genomes]
rs9568366	0.90[CHB][hapmap]
rs9596215	0.89[AMR][1000 genomes]
rs9596219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9596220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2066585	DLEU2	Cis_1M	lymphoblastoid	RTeQTL
rs2066585	DLEU2///DLEU2L	trans	lymphoblastoid	RTeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50657200-50673400	Weak transcription	Pancreas	Pancrea
2	chr13:50657400-50673400	Weak transcription	Left Ventricle	heart
3	chr13:50657400-50673400	Weak transcription	HSMM	muscle
4	chr13:50658000-50673400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:50658000-50697200	Weak transcription	HSMMtube	muscle
6	chr13:50658400-50673400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr13:50658600-50673400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr13:50659600-50672600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr13:50659600-50673000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr13:50659600-50673200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr13:50659800-50672400	Weak transcription	A549	lung
12	chr13:50659800-50672600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:50659800-50672600	Weak transcription	Fetal Lung	lung
14	chr13:50659800-50672600	Weak transcription	Osteobl	bone
15	chr13:50659800-50673400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:50659800-50673400	Weak transcription	NH-A	brain
17	chr13:50659800-50681600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr13:50659800-50697200	Weak transcription	Hela-S3	cervix
19	chr13:50660200-50673400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:50665200-50673400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr13:50666200-50673400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr13:50666400-50673400	Weak transcription	Fetal Intestine Small	intestine
23	chr13:50666400-50680200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr13:50666400-50680400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr13:50666600-50672600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr13:50666600-50672800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr13:50666600-50673000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr13:50666600-50673400	Weak transcription	Brain Anterior Caudate	brain
29	chr13:50666600-50673400	Weak transcription	Thymus	Thymus
30	chr13:50666600-50680000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr13:50666800-50673400	Weak transcription	Liver	Liver
32	chr13:50666800-50673600	Weak transcription	Psoas Muscle	Psoas
33	chr13:50667000-50672400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:50667600-50672600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr13:50667600-50674800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr13:50667800-50673000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr13:50667800-50673200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr13:50667800-50673400	Strong transcription	Fetal Thymus	thymus
39	chr13:50668600-50673400	Weak transcription	Spleen	Spleen
40	chr13:50668800-50673400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:50669200-50672400	Weak transcription	Dnd41	blood
42	chr13:50669200-50678800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr13:50669400-50673200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:50670800-50672800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr13:50670800-50673800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr13:50671200-50672400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr13:50671400-50672400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr13:50671400-50672400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr13:50671400-50673600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:50671600-50673400	Weak transcription	Aorta	Aorta

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