Variant report

Variant	rs2065743
Chromosome Location	chr13:80116979-80116980
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:79995522..79997375-chr13:80115696..80117615,2	K562	blood:
2	chr13:79979230..79982836-chr13:80114547..80117460,3	K562	blood:

Variant related genes	Relation type
ENSG00000139746	Chromatin interaction
ENSG00000227354	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1208049	0.91[ASN][1000 genomes]
rs1212082	0.94[ASN][1000 genomes]
rs1335368	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1335370	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1408049	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414155	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1414156	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1475797	0.92[ASN][1000 genomes]
rs1577416	0.92[ASN][1000 genomes]
rs1577418	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2181433	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2476172	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2476173	0.94[ASN][1000 genomes]
rs2484343	0.94[ASN][1000 genomes]
rs2484344	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2760101	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2760102	0.94[ASN][1000 genomes]
rs2760103	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2760105	0.95[ASN][1000 genomes]
rs2760106	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2783119	0.94[ASN][1000 genomes]
rs2783120	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2783121	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2783122	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2783125	0.86[ASN][1000 genomes]
rs2783126	0.86[ASN][1000 genomes]
rs2783127	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs314687	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs314689	0.81[AMR][1000 genomes]
rs386603	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4145207	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4476060	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4885633	0.83[ASN][1000 genomes]
rs4885634	0.91[ASN][1000 genomes]
rs4885636	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563110	0.89[ASN][1000 genomes]
rs6563113	0.91[ASN][1000 genomes]
rs6563115	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6563116	0.92[ASN][1000 genomes]
rs700396	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7321953	0.94[ASN][1000 genomes]
rs73235963	0.94[ASN][1000 genomes]
rs7338530	0.89[ASN][1000 genomes]
rs7339303	0.94[ASN][1000 genomes]
rs7982263	0.90[ASN][1000 genomes]
rs7988601	0.89[ASN][1000 genomes]
rs7990250	0.96[EUR][1000 genomes]
rs7990344	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7996493	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8002042	0.91[ASN][1000 genomes]
rs9318644	0.94[ASN][1000 genomes]
rs9530922	0.83[ASN][1000 genomes]
rs9530925	0.91[ASN][1000 genomes]
rs9545142	0.83[ASN][1000 genomes]
rs9565510	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9574429	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9574434	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9593399	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9601240	0.94[ASN][1000 genomes]
rs9601242	0.94[ASN][1000 genomes]
rs987284	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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
rs2065743	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
2	chr13:80083000-80120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:80083000-80122800	Weak transcription	Stomach Mucosa	stomach
4	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
5	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
6	chr13:80089400-80118400	Weak transcription	Small Intestine	intestine
7	chr13:80097200-80122800	Weak transcription	Fetal Lung	lung
8	chr13:80097400-80121800	Weak transcription	Lung	lung
9	chr13:80098400-80123200	Weak transcription	Fetal Kidney	kidney
10	chr13:80098600-80135000	Weak transcription	Placenta	Placenta
11	chr13:80099400-80133200	Weak transcription	Psoas Muscle	Psoas
12	chr13:80100400-80121600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:80100600-80136400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr13:80100800-80133200	Weak transcription	Hela-S3	cervix
15	chr13:80101000-80123400	Weak transcription	HMEC	breast
16	chr13:80101800-80133200	Weak transcription	Primary T cells from cord blood	blood
17	chr13:80102200-80133600	Weak transcription	Gastric	stomach
18	chr13:80104800-80133600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:80108400-80132200	Weak transcription	A549	lung
20	chr13:80109000-80121600	Weak transcription	HSMMtube	muscle
21	chr13:80109000-80123200	Weak transcription	NH-A	brain
22	chr13:80109000-80129400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:80109000-80133200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr13:80109000-80133200	Weak transcription	HSMM	muscle
25	chr13:80109200-80123000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:80109200-80123000	Weak transcription	Fetal Heart	heart
27	chr13:80109200-80133200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr13:80109600-80123200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:80109600-80133200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr13:80109800-80128000	Weak transcription	NHDF-Ad	bronchial
31	chr13:80109800-80131600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr13:80110000-80122800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr13:80110600-80117600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr13:80110600-80118200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr13:80110600-80133200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr13:80112400-80117800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:80112600-80122800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:80112600-80131800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr13:80112600-80133200	Weak transcription	Osteobl	bone
40	chr13:80113200-80119800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr13:80113200-80123600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr13:80113200-80123600	Weak transcription	Fetal Intestine Small	intestine
43	chr13:80113200-80131600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:80113200-80133800	Weak transcription	Left Ventricle	heart
45	chr13:80114400-80130600	Weak transcription	NHEK	skin
46	chr13:80114400-80131600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr13:80114600-80131800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr13:80115000-80123200	Weak transcription	Fetal Intestine Large	intestine
49	chr13:80115000-80133800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr13:80115200-80119800	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links