Variant report

Variant	rs2740508
Chromosome Location	chr13:50677237-50677238
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50676147..50677856-chr13:50697391..50699773,2	MCF-7	breast:
2	chr13:50675965..50677737-chr13:50679197..50681160,2	K562	blood:
3	chr13:50665778..50667846-chr13:50675937..50677538,2	K562	blood:
4	chr13:50671796..50673369-chr13:50676139..50678779,2	K562	blood:
5	chr13:50649792..50652583-chr13:50676207..50678112,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1326120	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2066549	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2066557	0.87[ASN][1000 genomes]
rs2066558	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2066572	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2066575	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2066585	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2066587	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2066591	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2066594	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2242482	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2687951	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2740524	0.85[ASN][1000 genomes]
rs2740544	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2740545	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2760914	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2803839	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2812204	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2812216	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2812217	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2812222	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2997624	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4942899	0.81[AMR][1000 genomes]
rs4942901	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7338055	0.81[AMR][1000 genomes]
rs9568363	0.91[AMR][1000 genomes]
rs9568364	0.91[AMR][1000 genomes]
rs9596215	0.89[AMR][1000 genomes]
rs9596219	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9596220	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[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
rs2740508	DLEU2	Cis_1M	lymphoblastoid	RTeQTL
rs2740508	DLEU2///DLEU2L	trans	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50658000-50697200	Weak transcription	HSMMtube	muscle
2	chr13:50659800-50681600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:50659800-50697200	Weak transcription	Hela-S3	cervix
4	chr13:50666400-50680200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr13:50666400-50680400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr13:50666600-50680000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr13:50669200-50678800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr13:50671600-50689800	Weak transcription	Colonic Mucosa	Colon
9	chr13:50672000-50689400	Weak transcription	Right Ventricle	heart
10	chr13:50673000-50678600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr13:50673000-50680600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr13:50673000-50695600	Weak transcription	Fetal Intestine Large	intestine
13	chr13:50673200-50682600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:50673600-50677600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr13:50673600-50678400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:50673600-50679000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr13:50673600-50679800	Weak transcription	Adipose Nuclei	Adipose
18	chr13:50673600-50680200	Weak transcription	Fetal Heart	heart
19	chr13:50673600-50680600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr13:50673600-50681000	Weak transcription	Fetal Lung	lung
21	chr13:50673600-50688400	Weak transcription	HepG2	liver
22	chr13:50673600-50690400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:50673800-50678000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:50673800-50678000	Weak transcription	Right Atrium	heart
25	chr13:50673800-50678200	Weak transcription	Primary T cells from cord blood	blood
26	chr13:50673800-50678600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr13:50673800-50678600	Weak transcription	Osteobl	bone
28	chr13:50673800-50679000	Weak transcription	NH-A	brain
29	chr13:50673800-50680600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr13:50673800-50680600	Weak transcription	Brain Substantia Nigra	brain
31	chr13:50673800-50681000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr13:50673800-50693800	Weak transcription	K562	blood
33	chr13:50673800-50697600	Weak transcription	HSMM	muscle
34	chr13:50674000-50678000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:50674000-50678000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:50674000-50678400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:50674000-50679000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:50674000-50679000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:50674000-50679000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:50674000-50679400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr13:50674000-50679600	Weak transcription	Lung	lung
42	chr13:50674000-50680400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr13:50674000-50680600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr13:50674000-50680600	Weak transcription	Brain Anterior Caudate	brain
45	chr13:50674000-50680800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr13:50674000-50681400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr13:50674000-50681400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr13:50674000-50681600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr13:50674000-50684800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr13:50674000-50689400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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