Variant report

Variant	rs61959931
Chromosome Location	chr13:50255002-50255003
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	chr13:50254223..50257561-chr13:50258855..50261948,4	K562	blood:
2	chr13:50252667..50256255-chr13:50260389..50264756,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11839475	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12428286	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1407439	0.82[ASN][1000 genomes]
rs2273817	0.82[ASN][1000 genomes]
rs35150514	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35526541	0.82[ASN][1000 genomes]
rs56006419	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959916	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959917	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959930	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61959935	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61959938	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6561556	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7321073	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7321709	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332209	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734223	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs748678	0.88[ASN][1000 genomes]
rs9535314	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv541772	chr13:50218255-50264414	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61959931	EBPL	cis	Esophagus Mucosa	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50231800-50256000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr13:50235600-50259800	Weak transcription	Right Ventricle	heart
3	chr13:50237000-50256600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr13:50237400-50256000	Weak transcription	NH-A	brain
5	chr13:50241000-50264800	Weak transcription	Aorta	Aorta
6	chr13:50241800-50256000	Weak transcription	HMEC	breast
7	chr13:50242200-50256200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:50242200-50260600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr13:50242200-50261000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr13:50242200-50261400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr13:50242200-50264200	Weak transcription	K562	blood
12	chr13:50242200-50264400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr13:50242200-50264400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr13:50242400-50256200	Weak transcription	Brain Substantia Nigra	brain
15	chr13:50242400-50260200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr13:50242400-50260400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr13:50242400-50261400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr13:50242400-50261400	Weak transcription	Gastric	stomach
19	chr13:50242400-50262200	Weak transcription	Spleen	Spleen
20	chr13:50242400-50263200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr13:50242400-50263800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr13:50242400-50264000	Weak transcription	Thymus	Thymus
23	chr13:50242400-50264400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:50242400-50264400	Weak transcription	Adipose Nuclei	Adipose
25	chr13:50242400-50264400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr13:50242600-50260000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr13:50244200-50256200	Weak transcription	Fetal Kidney	kidney
28	chr13:50244400-50264400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr13:50244600-50255800	Weak transcription	NHDF-Ad	bronchial
30	chr13:50244800-50255600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr13:50245600-50256000	Weak transcription	Osteobl	bone
32	chr13:50245600-50256200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr13:50245800-50255800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:50245800-50256400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:50245800-50261400	Weak transcription	HUVEC	blood vessel
36	chr13:50246000-50264600	Weak transcription	Left Ventricle	heart
37	chr13:50246200-50261400	Weak transcription	Hela-S3	cervix
38	chr13:50247000-50264400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr13:50247200-50256000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr13:50248400-50263600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr13:50249400-50263600	Weak transcription	Primary B cells from cord blood	blood
42	chr13:50249800-50255600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:50249800-50255800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr13:50249800-50256000	Weak transcription	NHLF	lung
45	chr13:50250200-50260000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr13:50250400-50256000	Weak transcription	GM12878-XiMat	blood
47	chr13:50250400-50264400	Weak transcription	Primary T cells from cord blood	blood
48	chr13:50251400-50256000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr13:50251400-50264400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr13:50251600-50256200	Weak transcription	Fetal Lung	lung

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