Variant report

Variant	rs6563115
Chromosome Location	chr13:80091781-80091782
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	chr13:80088753..80091957-chr13:80093652..80097974,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1208049	0.89[ASN][1000 genomes]
rs1212082	0.92[ASN][1000 genomes]
rs1335368	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1335370	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1408049	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1414155	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1414156	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1475797	0.94[ASN][1000 genomes]
rs1577416	0.94[ASN][1000 genomes]
rs1577418	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2065743	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2181433	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2476172	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2476173	0.92[ASN][1000 genomes]
rs2484343	0.92[ASN][1000 genomes]
rs2484344	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2760101	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2760102	0.92[ASN][1000 genomes]
rs2760103	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2760105	0.93[ASN][1000 genomes]
rs2760106	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2783119	0.96[ASN][1000 genomes]
rs2783120	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2783121	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2783122	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2783125	0.84[ASN][1000 genomes]
rs2783126	0.84[ASN][1000 genomes]
rs2783127	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs314687	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs314688	0.82[ASN][1000 genomes]
rs314689	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs386603	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4145207	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4476060	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4885633	0.85[ASN][1000 genomes]
rs4885634	0.92[ASN][1000 genomes]
rs4885636	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6563110	0.91[ASN][1000 genomes]
rs6563113	0.92[ASN][1000 genomes]
rs6563116	0.94[ASN][1000 genomes]
rs700396	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7321953	0.96[ASN][1000 genomes]
rs73235963	0.92[ASN][1000 genomes]
rs7325095	0.81[ASN][1000 genomes]
rs7338530	0.91[ASN][1000 genomes]
rs7339303	0.96[ASN][1000 genomes]
rs7982263	0.91[ASN][1000 genomes]
rs7988601	0.91[ASN][1000 genomes]
rs7990250	0.97[EUR][1000 genomes]
rs7990344	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7996493	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8002042	0.92[ASN][1000 genomes]
rs9318644	0.96[ASN][1000 genomes]
rs9530922	0.85[ASN][1000 genomes]
rs9530925	0.92[ASN][1000 genomes]
rs9545142	0.82[ASN][1000 genomes]
rs9565510	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9574429	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9574434	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9593399	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9601240	0.92[ASN][1000 genomes]
rs9601242	0.92[ASN][1000 genomes]
rs987284	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6563115	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
2	chr13:80067200-80095000	Weak transcription	HSMM	muscle
3	chr13:80070600-80096600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:80076000-80099200	Weak transcription	Hela-S3	cervix
5	chr13:80076200-80093200	Weak transcription	HMEC	breast
6	chr13:80077600-80095600	Weak transcription	Fetal Intestine Large	intestine
7	chr13:80078000-80097200	Weak transcription	Psoas Muscle	Psoas
8	chr13:80078000-80097800	Weak transcription	Ovary	ovary
9	chr13:80078200-80102000	Weak transcription	Right Ventricle	heart
10	chr13:80079600-80098200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr13:80082800-80092400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:80082800-80096600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr13:80082800-80096600	Weak transcription	Lung	lung
14	chr13:80082800-80108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:80083000-80095200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr13:80083000-80120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:80083000-80122800	Weak transcription	Stomach Mucosa	stomach
18	chr13:80083200-80095000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:80083200-80095000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:80083400-80092200	Weak transcription	NHEK	skin
21	chr13:80083400-80093000	Weak transcription	Right Atrium	heart
22	chr13:80083400-80096200	Weak transcription	Left Ventricle	heart
23	chr13:80085000-80093000	Weak transcription	Fetal Intestine Small	intestine
24	chr13:80085000-80096800	Weak transcription	Primary T cells from cord blood	blood
25	chr13:80086800-80098400	Weak transcription	Brain Substantia Nigra	brain
26	chr13:80087000-80095000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr13:80087400-80092800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr13:80087400-80093800	Enhancers	Dnd41	blood
29	chr13:80087400-80095200	Weak transcription	Liver	Liver
30	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
31	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
32	chr13:80087800-80095000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:80087800-80096600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr13:80088000-80095200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr13:80089000-80096600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr13:80089200-80098800	Weak transcription	Brain Angular Gyrus	brain
37	chr13:80089400-80097800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr13:80089400-80098800	Weak transcription	Brain Anterior Caudate	brain
39	chr13:80089400-80098800	Weak transcription	Brain Hippocampus Middle	brain
40	chr13:80089400-80099200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr13:80089400-80118400	Weak transcription	Small Intestine	intestine
42	chr13:80089800-80094800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:80090000-80095000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr13:80090400-80096600	Weak transcription	HUVEC	blood vessel
45	chr13:80090600-80112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr13:80090800-80103400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr13:80091000-80092200	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr13:80091000-80092200	Weak transcription	Osteobl	bone
49	chr13:80091000-80099200	Weak transcription	K562	blood
50	chr13:80091200-80091800	Enhancers	Brain Cingulate Gyrus	brain

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