Variant report

Variant	rs2783120
Chromosome Location	chr13:80099473-80099474
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	chr13:80094980..80096725-chr13:80098765..80101682,2	K562	blood:

Extended variants
information (count: 65 )
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	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1335370	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1408049	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1414155	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1414156	0.96[AFR][1000 genomes];0.98[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	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2065743	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2181433	0.86[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	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2760101	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2760102	0.92[ASN][1000 genomes]
rs2760103	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2760105	0.93[ASN][1000 genomes]
rs2760106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2783119	0.96[ASN][1000 genomes]
rs2783121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2783122	1.00[AFR][1000 genomes];1.00[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	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs314687	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs314688	0.82[ASN][1000 genomes]
rs314689	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs386603	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4145207	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4476060	0.88[AFR][1000 genomes];0.92[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	0.98[AFR][1000 genomes];0.98[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]
rs6563115	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563116	0.94[ASN][1000 genomes]
rs700396	0.81[AFR][1000 genomes];0.98[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	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7996493	0.93[AFR][1000 genomes];0.94[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	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9574429	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9574434	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9593399	0.92[AFR][1000 genomes];0.90[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	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
rs2783120	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
2	chr13:80078200-80102000	Weak transcription	Right Ventricle	heart
3	chr13:80082800-80108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:80083000-80120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:80083000-80122800	Weak transcription	Stomach Mucosa	stomach
6	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
7	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
8	chr13:80089400-80118400	Weak transcription	Small Intestine	intestine
9	chr13:80090600-80112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:80090800-80103400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr13:80091400-80108000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:80092200-80109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr13:80092400-80102000	Weak transcription	Colonic Mucosa	Colon
14	chr13:80093000-80110200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr13:80093400-80104200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr13:80093400-80112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:80093600-80108200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:80093800-80104400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr13:80093800-80109800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr13:80095000-80099600	Strong transcription	Adipose Nuclei	Adipose
21	chr13:80095000-80099800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr13:80095000-80100400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:80095000-80100600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:80095000-80101800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:80095000-80102800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr13:80095200-80100400	Strong transcription	Liver	Liver
27	chr13:80095200-80101400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr13:80095600-80102400	Strong transcription	Fetal Intestine Large	intestine
29	chr13:80095600-80104200	Weak transcription	Fetal Brain Female	brain
30	chr13:80095600-80108000	Weak transcription	NHDF-Ad	bronchial
31	chr13:80095600-80109000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:80095600-80109000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:80096600-80100400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:80097000-80100400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr13:80097000-80102800	Weak transcription	Fetal Stomach	stomach
36	chr13:80097000-80108000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr13:80097000-80109200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr13:80097000-80110400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr13:80097000-80112400	Weak transcription	Thymus	Thymus
40	chr13:80097200-80101000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr13:80097200-80101800	Strong transcription	Primary T cells from cord blood	blood
42	chr13:80097200-80104400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr13:80097200-80104600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr13:80097200-80108600	Weak transcription	HSMMtube	muscle
45	chr13:80097200-80112400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr13:80097200-80122800	Weak transcription	Fetal Lung	lung
47	chr13:80097400-80100200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr13:80097400-80106600	Genic enhancers	Dnd41	blood
49	chr13:80097400-80108600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr13:80097400-80121800	Weak transcription	Lung	lung

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