Variant report

Variant	rs6650380
Chromosome Location	chr13:50362790-50362791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50266035..50267824-chr13:50362193..50365135,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11616762	0.85[AMR][1000 genomes]
rs11617584	0.95[ASN][1000 genomes]
rs1885724	0.99[ASN][1000 genomes]
rs56286086	1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs73194405	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs73194411	0.95[ASN][1000 genomes]
rs73194416	0.93[ASN][1000 genomes]
rs73194417	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73194418	0.93[ASN][1000 genomes]
rs73194435	0.82[AMR][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	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv1818134	chr13:50306897-50374102	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv900074	chr13:50317104-50381016	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv900075	chr13:50331992-50376858	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6650380	EBPL	cis	Whole Blood	GTEx
rs6650380	KPNA3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50321000-50363800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr13:50336200-50364800	Weak transcription	Fetal Intestine Small	intestine
3	chr13:50336800-50364600	Weak transcription	NHLF	lung
4	chr13:50349600-50365400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:50349600-50365400	Weak transcription	Lung	lung
6	chr13:50351200-50364200	Weak transcription	HSMM	muscle
7	chr13:50351200-50364600	Weak transcription	HSMMtube	muscle
8	chr13:50351400-50363000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr13:50351600-50363800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr13:50351800-50363800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:50351800-50364000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:50352000-50365200	Weak transcription	Fetal Thymus	thymus
13	chr13:50352400-50364400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr13:50352600-50363800	Weak transcription	Pancreas	Pancrea
15	chr13:50352600-50363800	Weak transcription	Thymus	Thymus
16	chr13:50352600-50364800	Weak transcription	A549	lung
17	chr13:50353000-50363800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr13:50353000-50363800	Weak transcription	Small Intestine	intestine
19	chr13:50353800-50363800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:50354200-50363800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr13:50354200-50363800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr13:50354200-50364400	Weak transcription	Right Atrium	heart
23	chr13:50354200-50365400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr13:50354400-50363200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr13:50354400-50363600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr13:50354400-50365400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:50356000-50363200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:50356200-50363800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr13:50356200-50364800	Weak transcription	NHEK	skin
30	chr13:50356400-50364000	Weak transcription	Brain Anterior Caudate	brain
31	chr13:50356400-50365200	Weak transcription	Right Ventricle	heart
32	chr13:50356600-50363000	Weak transcription	Brain Hippocampus Middle	brain
33	chr13:50356600-50365000	Weak transcription	Fetal Kidney	kidney
34	chr13:50356800-50363200	Weak transcription	Brain Germinal Matrix	brain
35	chr13:50356800-50364600	Weak transcription	Primary B cells from cord blood	blood
36	chr13:50357000-50363600	Weak transcription	Fetal Brain Female	brain
37	chr13:50357000-50364400	Weak transcription	Ovary	ovary
38	chr13:50357800-50363000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr13:50357800-50363200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:50357800-50364000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr13:50357800-50364200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr13:50357800-50364600	Weak transcription	Fetal Stomach	stomach
43	chr13:50357800-50365200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr13:50358400-50363800	Weak transcription	Left Ventricle	heart
45	chr13:50358400-50364400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:50358400-50364600	Weak transcription	Aorta	Aorta
47	chr13:50358400-50365200	Weak transcription	Stomach Mucosa	stomach
48	chr13:50358400-50365600	Weak transcription	Gastric	stomach
49	chr13:50358600-50363200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:50359200-50363800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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