Variant report

Variant	rs9545104
Chromosome Location	chr13:79978135-79978136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr13:79977808-79978210	K562	blood:	n/a	n/a
2	POLR2A	chr13:79977980-79978264	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr13:79977723-79978994	K562	blood:	n/a	n/a
4	POLR2A	chr13:79976521-79982167	GM12891	blood:	n/a	n/a
5	ARID3A	chr13:79977824-79978449	K562	blood:	n/a	n/a
6	JUND	chr13:79977888-79978437	K562	blood:	n/a	n/a
7	POLR2A	chr13:79977880-79978801	GM12878	blood:	n/a	n/a
8	RCOR1	chr13:79978073-79978813	K562	blood:	n/a	n/a
9	JUN	chr13:79978096-79978342	K562	blood:	n/a	n/a
10	WRNIP1	chr13:79977824-79978862	GM12878	blood:	n/a	n/a
11	ZNF384	chr13:79977966-79978164	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
RBM26-AS1	TF binding region

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1022891	0.81[ASN][1000 genomes]
rs11620233	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12877507	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1324868	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1590465	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1616547	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1619669	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1624537	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1748761	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748762	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748763	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748769	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1749982	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1853830	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1886494	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980764	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2031815	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2095477	0.92[ASN][1000 genomes]
rs2147568	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2182009	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2265377	0.95[ASN][1000 genomes]
rs2265378	0.95[ASN][1000 genomes]
rs2265381	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2265382	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2296287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2477395	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2477397	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2484345	0.95[ASN][1000 genomes]
rs2763809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2763810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2765078	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2876740	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs314689	0.86[ASN][1000 genomes]
rs314690	0.88[ASN][1000 genomes]
rs314692	0.95[ASN][1000 genomes]
rs314693	0.95[ASN][1000 genomes]
rs314694	0.95[ASN][1000 genomes]
rs314695	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35476664	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3742120	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742122	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3764150	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4146473	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs416660	0.95[ASN][1000 genomes]
rs418150	0.95[ASN][1000 genomes]
rs4605023	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57821487	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs586219	0.95[ASN][1000 genomes]
rs643778	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6563100	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6563104	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7321186	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7322901	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7323246	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7328494	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7329331	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7330479	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331525	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7331766	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331867	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7331872	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7336186	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7336581	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7336939	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7336979	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7338678	0.93[ASN][1000 genomes]
rs7981500	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986306	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7987193	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7990321	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8001281	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8001308	0.88[ASN][1000 genomes]
rs8001392	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8001622	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8001795	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8002838	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs912639	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9318638	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9318640	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9318641	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9530913	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530914	0.99[ASN][1000 genomes]
rs9530915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9530917	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9530920	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545097	0.99[ASN][1000 genomes]
rs9545101	0.99[ASN][1000 genomes]
rs9545106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545108	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545109	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9545113	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545114	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9565496	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9565497	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9565500	0.94[ASN][1000 genomes]
rs9574416	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9574418	0.99[ASN][1000 genomes]
rs9574419	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9574420	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9574422	0.95[ASN][1000 genomes]
rs9593396	0.98[ASN][1000 genomes]
rs9601226	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9601227	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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
rs9545104	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 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	chr13:79968400-79979200	Weak transcription	Lung	lung
4	chr13:79968600-79978600	Weak transcription	Placenta	Placenta
5	chr13:79968600-79978600	Weak transcription	Pancreas	Pancrea
6	chr13:79968600-79979200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:79971400-79979200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:79971600-79978800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:79971800-79978600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr13:79974400-79978600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr13:79974600-79979200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:79975600-79978800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr13:79975800-79978600	Enhancers	Stomach Mucosa	stomach
14	chr13:79975800-79979600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:79976200-79981600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:79976400-79979000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr13:79976600-79978400	Flanking Active TSS	Fetal Brain Female	brain
18	chr13:79976600-79978400	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr13:79976600-79979000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr13:79976600-79979400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr13:79976600-79981600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr13:79976800-79978400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:79976800-79978600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr13:79976800-79978800	Flanking Active TSS	NHDF-Ad	bronchial
25	chr13:79976800-79979000	Flanking Active TSS	NHEK	skin
26	chr13:79976800-79979000	Flanking Active TSS	Osteobl	bone
27	chr13:79976800-79979200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr13:79976800-79979400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:79977000-79978200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
30	chr13:79977000-79978600	Flanking Active TSS	HepG2	liver
31	chr13:79977000-79978800	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr13:79977000-79979000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr13:79977000-79979400	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr13:79977000-79981400	Active TSS	GM12878-XiMat	blood
35	chr13:79977200-79978200	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr13:79977200-79978600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr13:79977200-79978800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:79977200-79978800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr13:79977200-79979000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr13:79977200-79979000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr13:79977200-79979400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr13:79977200-79979400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:79977200-79979400	Flanking Active TSS	HUVEC	blood vessel
44	chr13:79977200-79979600	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr13:79977200-79980000	Active TSS	Right Atrium	heart
46	chr13:79977400-79978200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr13:79977400-79978200	Enhancers	Fetal Stomach	stomach
48	chr13:79977400-79978400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr13:79977400-79978400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:79977400-79978600	Flanking Active TSS	Hela-S3	cervix

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