Variant report

Variant	rs9574420
Chromosome Location	chr13:79978477-79978478
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	POLR2A	chr13:79977723-79978994	K562	blood:	n/a	n/a
2	POLR2A	chr13:79976521-79982167	GM12891	blood:	n/a	n/a
3	EP300	chr13:79978329-79978648	K562	blood:	n/a	n/a
4	POLR2A	chr13:79977880-79978801	GM12878	blood:	n/a	n/a
5	RCOR1	chr13:79978073-79978813	K562	blood:	n/a	n/a
6	CHD1	chr13:79978462-79978793	GM12878	blood:	n/a	n/a
7	WRNIP1	chr13:79977824-79978862	GM12878	blood:	n/a	n/a

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: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1022891	0.80[ASN][1000 genomes]
rs11620233	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12877507	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324868	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1590465	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1616547	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1619669	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1624537	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1627031	0.88[AFR][1000 genomes]
rs1748761	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748762	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748763	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748769	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1749982	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1853830	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1886494	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980764	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2031815	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2095477	0.91[ASN][1000 genomes]
rs2147568	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2182009	0.99[AFR][1000 genomes];1.00[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	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2265382	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2296287	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2477395	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2477397	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2484345	0.95[ASN][1000 genomes]
rs2763809	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2763810	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2765078	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2876740	0.99[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	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35476664	0.89[AFR][1000 genomes];0.91[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	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4146473	0.87[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57821487	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs586219	0.95[ASN][1000 genomes]
rs643778	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6563100	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563104	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7321186	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7322901	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7323246	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7328494	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7329331	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7330479	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7331525	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7331766	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7331867	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7331872	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336186	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336581	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7336979	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7338678	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7981500	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7986306	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7987193	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7990321	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8001281	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8001308	0.87[ASN][1000 genomes]
rs8001392	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8001622	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8001795	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8002838	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs912639	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9318638	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9318640	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9318641	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530913	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9530914	0.98[ASN][1000 genomes]
rs9530915	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9530917	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530920	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545097	0.98[ASN][1000 genomes]
rs9545101	0.98[ASN][1000 genomes]
rs9545104	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9545106	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9545108	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545109	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545113	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545114	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9565496	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565497	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9565500	0.93[ASN][1000 genomes]
rs9574416	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9574418	0.98[ASN][1000 genomes]
rs9574419	0.99[AFR][1000 genomes];1.00[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	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9601227	0.89[AFR][1000 genomes];0.98[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
rs9574420	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	chr13:79968400-79979200	Weak transcription	Lung	lung
3	chr13:79968600-79978600	Weak transcription	Placenta	Placenta
4	chr13:79968600-79978600	Weak transcription	Pancreas	Pancrea
5	chr13:79968600-79979200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:79971400-79979200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:79971600-79978800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr13:79971800-79978600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr13:79974400-79978600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr13:79974600-79979200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:79975600-79978800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr13:79975800-79978600	Enhancers	Stomach Mucosa	stomach
13	chr13:79975800-79979600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:79976200-79981600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:79976400-79979000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr13:79976600-79979000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr13:79976600-79979400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr13:79976600-79981600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr13:79976800-79978600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr13:79976800-79978800	Flanking Active TSS	NHDF-Ad	bronchial
21	chr13:79976800-79979000	Flanking Active TSS	NHEK	skin
22	chr13:79976800-79979000	Flanking Active TSS	Osteobl	bone
23	chr13:79976800-79979200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr13:79976800-79979400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:79977000-79978600	Flanking Active TSS	HepG2	liver
26	chr13:79977000-79978800	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr13:79977000-79979000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr13:79977000-79979400	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr13:79977000-79981400	Active TSS	GM12878-XiMat	blood
30	chr13:79977200-79978600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr13:79977200-79978800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:79977200-79978800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr13:79977200-79979000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:79977200-79979000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr13:79977200-79979400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:79977200-79979400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:79977200-79979400	Flanking Active TSS	HUVEC	blood vessel
38	chr13:79977200-79979600	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr13:79977200-79980000	Active TSS	Right Atrium	heart
40	chr13:79977400-79978600	Flanking Active TSS	Hela-S3	cervix
41	chr13:79977400-79978800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr13:79977400-79978800	Transcr. at gene 5' and 3'	K562	blood
43	chr13:79977400-79979000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:79977400-79979000	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr13:79977400-79979000	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr13:79977400-79979400	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr13:79977400-79979400	Flanking Active TSS	Fetal Heart	heart
48	chr13:79977400-79979600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr13:79977400-79979600	Flanking Active TSS	Fetal Lung	lung
50	chr13:79977400-79980800	Active TSS	iPS-20b Cell Line	embryonic stem cell

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