Variant report

Variant	rs1886494
Chromosome Location	chr13:79977140-79977141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr13:79976783-79977170	MCF10A-Er-Src	breast:	n/a	chr13:79976974-79976984 chr13:79976974-79976983 chr13:79976974-79976984 chr13:79976976-79976983
2	STAT3	chr13:79976872-79977160	MCF10A-Er-Src	breast:	n/a	chr13:79976975-79976984
3	POLR2A	chr13:79976521-79982167	GM12891	blood:	n/a	n/a
4	MXI1	chr13:79977113-79977903	GM12878	blood:	n/a	n/a
5	FOS	chr13:79976645-79977177	MCF10A-Er-Src	breast:	n/a	chr13:79976974-79976984 chr13:79976974-79976983 chr13:79976974-79976984 chr13:79976976-79976983
6	EP300	chr13:79976222-79977157	K562	blood:	n/a	chr13:79976572-79976586 chr13:79976571-79976585 chr13:79976227-79976241 chr13:79976974-79976983
7	KAP1	chr13:79976706-79977981	U2OS	brain:	n/a	chr13:79976976-79976985

No.	Distal block	Cell Line	Cell type
1	chr13:79964555..79966375-chr13:79975893..79978787,3	MCF-7	breast:
2	chr13:79976864..79978863-chr13:80022728..80024342,2	K562	blood:
3	chr13:79960135..79962154-chr13:79975987..79978661,2	K562	blood:

Variant related genes	Relation type
RBM26-AS1	TF binding region

Extended variants
information (count: 106 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1022891	0.80[ASN][1000 genomes]
rs11620233	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12584193	0.96[AFR][1000 genomes]
rs12877507	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324868	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1590465	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1616547	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1619669	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1624537	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748761	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748762	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748763	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748769	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1749982	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1853830	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1980764	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2031815	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2095477	0.91[ASN][1000 genomes]
rs2147568	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2182009	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2265377	0.95[ASN][1000 genomes]
rs2265378	0.95[ASN][1000 genomes]
rs2265381	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2265382	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2296287	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2477395	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2477397	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2484345	0.95[ASN][1000 genomes]
rs2763809	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2763810	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2765078	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2876740	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs314689	0.87[ASN][1000 genomes]
rs314690	0.87[ASN][1000 genomes]
rs314692	0.95[ASN][1000 genomes]
rs314693	0.95[ASN][1000 genomes]
rs314694	0.95[ASN][1000 genomes]
rs314695	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35476664	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3742120	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742122	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3764150	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4146473	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs416660	0.95[ASN][1000 genomes]
rs418150	0.95[ASN][1000 genomes]
rs4605023	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57821487	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs586219	0.95[ASN][1000 genomes]
rs643778	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6563100	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563104	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7321186	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7322901	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7323246	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7328494	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7329331	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7330479	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7331525	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7331766	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7331867	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7331872	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336186	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336581	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336939	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7336979	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7338678	0.94[ASN][1000 genomes]
rs7981500	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7986306	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7987193	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7990321	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8001281	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8001308	0.87[ASN][1000 genomes]
rs8001392	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8001622	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8001638	0.85[AFR][1000 genomes]
rs8001795	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8002838	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs912639	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9318638	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9318640	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9318641	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530913	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9530914	0.98[ASN][1000 genomes]
rs9530915	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9530917	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530920	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545097	0.98[ASN][1000 genomes]
rs9545101	0.98[ASN][1000 genomes]
rs9545104	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9545106	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9545108	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545109	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545113	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545114	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9565496	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565497	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9565500	0.93[ASN][1000 genomes]
rs9574416	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9574418	0.98[ASN][1000 genomes]
rs9574419	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9574420	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9574422	0.95[ASN][1000 genomes]
rs9593396	0.97[ASN][1000 genomes]
rs9601226	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9601227	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1886494	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	chr13:79951200-79979200	Weak transcription	Esophagus	oesophagus
2	chr13:79951800-79978200	Weak transcription	Aorta	Aorta
3	chr13:79952600-79977800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:79958800-79977800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:79968000-79977800	Weak transcription	Gastric	stomach
6	chr13:79968400-79977200	Weak transcription	Right Atrium	heart
7	chr13:79968400-79979200	Weak transcription	Lung	lung
8	chr13:79968600-79977800	Weak transcription	Spleen	Spleen
9	chr13:79968600-79978600	Weak transcription	Placenta	Placenta
10	chr13:79968600-79978600	Weak transcription	Pancreas	Pancrea
11	chr13:79968600-79979200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:79969200-79977800	Weak transcription	Left Ventricle	heart
13	chr13:79969600-79977200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:79970400-79977200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr13:79970400-79977800	Weak transcription	HSMMtube	muscle
16	chr13:79971400-79979200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:79971600-79977400	Weak transcription	Fetal Kidney	kidney
18	chr13:79971600-79978800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr13:79971800-79977400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr13:79971800-79977400	Weak transcription	Fetal Stomach	stomach
21	chr13:79971800-79977800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:79971800-79977800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr13:79971800-79977800	Weak transcription	Fetal Muscle Leg	muscle
24	chr13:79971800-79978600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr13:79972200-79977800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr13:79973000-79978000	Enhancers	Fetal Brain Male	brain
27	chr13:79973400-79977400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:79974400-79977600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr13:79974400-79978600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr13:79974600-79977200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:79974600-79977600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr13:79974600-79977800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr13:79974600-79979200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:79974800-79977200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr13:79974800-79977400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr13:79975000-79977600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr13:79975000-79977800	Enhancers	Liver	Liver
38	chr13:79975200-79977400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:79975200-79977400	Enhancers	Duodenum Mucosa	Duodenum
40	chr13:79975400-79977800	Enhancers	Primary B cells from peripheral blood	blood
41	chr13:79975400-79977800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr13:79975400-79977800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr13:79975600-79977200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr13:79975600-79977200	Enhancers	Small Intestine	intestine
45	chr13:79975600-79977400	Enhancers	Fetal Intestine Small	intestine
46	chr13:79975600-79977400	Enhancers	Rectal Smooth Muscle	rectum
47	chr13:79975600-79977400	Enhancers	Thymus	Thymus
48	chr13:79975600-79977400	Strong transcription	HSMM	muscle
49	chr13:79975600-79977600	Enhancers	Adipose Nuclei	Adipose
50	chr13:79975600-79977800	Enhancers	Brain Substantia Nigra	brain

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