Variant report

Variant	rs11620233
Chromosome Location	chr13:79948006-79948007
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	chr13:79945909..79948690-chr13:79954494..79956111,2	K562	blood:
2	chr13:79940489..79942669-chr13:79947874..79950241,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139746	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs12584193	0.83[AFR][1000 genomes]
rs12877507	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1324868	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1590465	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1616547	0.83[EUR][1000 genomes]
rs1619669	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1624537	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1748761	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1748762	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1748763	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1748769	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1749982	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1853830	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1886494	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1980764	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2031815	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2147568	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2182009	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2265377	0.83[ASN][1000 genomes]
rs2265378	0.83[ASN][1000 genomes]
rs2265381	0.84[ASN][1000 genomes]
rs2265382	0.84[ASN][1000 genomes]
rs2296287	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2477395	0.84[ASN][1000 genomes]
rs2477397	0.84[ASN][1000 genomes]
rs2484345	0.83[ASN][1000 genomes]
rs2763809	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2763810	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2765078	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2876740	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs314692	0.83[ASN][1000 genomes]
rs314693	0.83[ASN][1000 genomes]
rs314694	0.83[ASN][1000 genomes]
rs314695	0.85[ASN][1000 genomes]
rs35476664	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742120	0.87[ASN][1000 genomes]
rs3742122	0.87[ASN][1000 genomes]
rs3764150	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4146473	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs416660	0.83[ASN][1000 genomes]
rs418150	0.83[ASN][1000 genomes]
rs4605023	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57821487	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs586219	0.83[ASN][1000 genomes]
rs643778	0.83[ASN][1000 genomes]
rs6563100	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6563104	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7321186	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7322901	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7323246	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7328494	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7329331	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7330479	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7331525	0.85[ASN][1000 genomes]
rs7331766	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7331867	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7331872	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7336186	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7336581	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7336939	0.83[EUR][1000 genomes]
rs7336979	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7338678	0.82[ASN][1000 genomes]
rs7981500	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7986306	0.84[ASN][1000 genomes]
rs7987193	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7990321	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8001281	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8001392	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8001622	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8001795	0.83[ASN][1000 genomes]
rs8002838	0.83[ASN][1000 genomes]
rs912639	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9318638	0.84[ASN][1000 genomes]
rs9318640	0.84[ASN][1000 genomes]
rs9318641	0.84[ASN][1000 genomes]
rs9530913	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9530914	0.87[ASN][1000 genomes]
rs9530915	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9530917	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9530920	0.83[ASN][1000 genomes]
rs9545097	0.87[ASN][1000 genomes]
rs9545101	0.87[ASN][1000 genomes]
rs9545104	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9545106	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9545108	0.83[ASN][1000 genomes]
rs9545109	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9545113	0.83[ASN][1000 genomes]
rs9545114	0.83[ASN][1000 genomes]
rs9565496	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9565497	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9565500	0.82[ASN][1000 genomes]
rs9574416	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9574418	0.87[ASN][1000 genomes]
rs9574419	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9574420	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9574422	0.83[ASN][1000 genomes]
rs9593396	0.86[ASN][1000 genomes]
rs9601226	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9601227	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900586	chr13:79892722-79968467	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv900587	chr13:79894736-79956691	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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
4	esv3330376	chr13:79945976-79948724	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3420791	chr13:79946451-79948499	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3397600	chr13:79947176-79949424	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11620233	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79886600-79950200	Weak transcription	Fetal Brain Male	brain
2	chr13:79893200-79957800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:79894400-79950200	Weak transcription	Stomach Mucosa	stomach
4	chr13:79923000-79950600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:79936800-79948600	Weak transcription	Fetal Heart	heart
6	chr13:79941200-79950200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:79941200-79951000	Weak transcription	Aorta	Aorta
8	chr13:79941800-79956600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:79942000-79950200	Weak transcription	Small Intestine	intestine
10	chr13:79942000-79950400	Weak transcription	Gastric	stomach
11	chr13:79942000-79967400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:79942400-79948200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:79942400-79948200	Weak transcription	Right Ventricle	heart
14	chr13:79942400-79950600	Weak transcription	Pancreas	Pancrea
15	chr13:79943000-79957800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:79944400-79950400	Weak transcription	Spleen	Spleen
17	chr13:79944400-79951000	Weak transcription	Esophagus	oesophagus
18	chr13:79944800-79950200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:79944800-79950200	Weak transcription	Brain Angular Gyrus	brain
20	chr13:79945000-79949400	Weak transcription	Brain Hippocampus Middle	brain
21	chr13:79945200-79948200	Weak transcription	Fetal Brain Female	brain
22	chr13:79945200-79950400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr13:79945400-79948200	Weak transcription	Fetal Stomach	stomach
24	chr13:79945400-79948200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr13:79945400-79949600	Weak transcription	Brain Germinal Matrix	brain
26	chr13:79945400-79950600	Weak transcription	Brain Substantia Nigra	brain
27	chr13:79945800-79948800	Weak transcription	Brain Anterior Caudate	brain
28	chr13:79946000-79948400	Weak transcription	Psoas Muscle	Psoas
29	chr13:79946000-79949400	Weak transcription	NH-A	brain
30	chr13:79946000-79949600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr13:79946000-79949600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:79946000-79950000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr13:79946000-79950000	Weak transcription	Colon Smooth Muscle	Colon
34	chr13:79946000-79960000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr13:79946200-79948200	Weak transcription	Hela-S3	cervix
36	chr13:79946200-79949400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr13:79946200-79949400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr13:79946200-79949600	Weak transcription	Placenta	Placenta
39	chr13:79946200-79950000	Weak transcription	HMEC	breast
40	chr13:79946200-79950000	Weak transcription	HSMMtube	muscle
41	chr13:79946400-79948200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr13:79946400-79948200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:79946400-79948200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr13:79946400-79948200	Weak transcription	Liver	Liver
45	chr13:79946400-79948200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr13:79946400-79948200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr13:79946400-79948200	Weak transcription	Fetal Intestine Small	intestine
48	chr13:79946400-79948200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr13:79946400-79948200	Weak transcription	Left Ventricle	heart
50	chr13:79946400-79948200	Weak transcription	Lung	lung

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