Variant report

Variant	rs2066558
Chromosome Location	chr13:50610595-50610596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50605656..50608518-chr13:50609379..50612153,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1326120	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2066549	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2066557	0.94[ASN][1000 genomes]
rs2066572	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2066575	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2066585	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2066587	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2066591	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2066594	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2242482	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2687951	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2740508	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2740524	0.93[ASN][1000 genomes]
rs2740544	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2740545	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2760914	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2803839	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2812204	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2812216	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2812217	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2812222	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2997624	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4942899	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4942901	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7338055	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs790943	0.80[ASN][1000 genomes]
rs9535407	0.81[ASN][1000 genomes]
rs9568363	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9568364	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9596215	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9596219	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9596220	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv1054415	chr13:50598121-50650938	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1202 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2066558	DLEU2	Cis_1M	lymphoblastoid	RTeQTL
rs2066558	DLEU2///DLEU2L	trans	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50578600-50629800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:50578800-50654400	Weak transcription	Esophagus	oesophagus
3	chr13:50586800-50654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:50587000-50633800	Weak transcription	Hela-S3	cervix
5	chr13:50587000-50645600	Weak transcription	Spleen	Spleen
6	chr13:50587200-50617000	Weak transcription	HepG2	liver
7	chr13:50588000-50645600	Weak transcription	Ovary	ovary
8	chr13:50589800-50645600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr13:50590000-50624200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr13:50590200-50653600	Weak transcription	Small Intestine	intestine
11	chr13:50593000-50618600	Weak transcription	HMEC	breast
12	chr13:50594600-50622600	Weak transcription	A549	lung
13	chr13:50594600-50635000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr13:50594800-50616400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr13:50594800-50641000	Weak transcription	Lung	lung
16	chr13:50594800-50643200	Weak transcription	Brain Hippocampus Middle	brain
17	chr13:50594800-50643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr13:50595000-50615600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr13:50595000-50617200	Weak transcription	Fetal Heart	heart
20	chr13:50595000-50654200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr13:50595200-50640000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr13:50595800-50616000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:50595800-50616200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:50595800-50654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:50596400-50620400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:50596800-50614000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:50596800-50615600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr13:50597000-50624600	Weak transcription	Fetal Lung	lung
29	chr13:50598200-50616200	Weak transcription	Fetal Muscle Leg	muscle
30	chr13:50598200-50629800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr13:50598200-50634800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr13:50598200-50641000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr13:50598400-50616800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:50598600-50612400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:50598600-50626000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr13:50598600-50627800	Weak transcription	Brain Germinal Matrix	brain
37	chr13:50598600-50640000	Weak transcription	Placenta	Placenta
38	chr13:50598600-50650200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr13:50598800-50612400	Weak transcription	Fetal Stomach	stomach
40	chr13:50598800-50616000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr13:50598800-50616200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr13:50599000-50614200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr13:50599200-50616200	Weak transcription	Brain Angular Gyrus	brain
44	chr13:50599400-50612600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:50599400-50614000	Weak transcription	HSMM	muscle
46	chr13:50599800-50613800	Weak transcription	NHDF-Ad	bronchial
47	chr13:50599800-50615800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr13:50600000-50612400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:50600800-50616000	Weak transcription	Thymus	Thymus
50	chr13:50601200-50612400	Weak transcription	Fetal Intestine Small	intestine

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