Variant report

Variant	rs9574419
Chromosome Location	chr13:79976472-79976473
allele	C/T
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	ZNF384	chr13:79975661-79976765	GM12878	blood:	n/a	n/a
2	ZNF384	chr13:79976150-79976794	K562	blood:	n/a	n/a
3	BACH1	chr13:79976338-79976853	K562	blood:	n/a	n/a
4	MAFK	chr13:79976263-79976473	HepG2	liver:	n/a	n/a
5	MAFK	chr13:79976226-79976986	K562	blood:	n/a	n/a
6	MAFK	chr13:79976233-79976771	H1-hESC	embryonic stem cell:	n/a	n/a
7	ARID3A	chr13:79976308-79977071	K562	blood:	n/a	chr13:79976412-79976428
8	JUND	chr13:79975905-79977096	K562	blood:	n/a	chr13:79976974-79976984 chr13:79976974-79976983 chr13:79976974-79976984 chr13:79976976-79976983
9	EP300	chr13:79976222-79977157	K562	blood:	n/a	chr13:79976572-79976586 chr13:79976571-79976585 chr13:79976227-79976241 chr13:79976974-79976983
10	MAFF	chr13:79976206-79976836	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:79964555..79966375-chr13:79975893..79978787,3	MCF-7	breast:
2	chr13:79960135..79962154-chr13:79975987..79978661,2	K562	blood:
3	chr13:79966275..79969690-chr13:79971723..79976630,6	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324868	0.90[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	1.00[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	1.00[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	0.90[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	0.91[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	0.98[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	0.93[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	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7338678	0.87[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	0.99[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	0.86[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	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565497	1.00[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]
rs9574420	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9601227	0.90[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
rs9574419	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	chr13:79968000-79976600	Weak transcription	Right Ventricle	heart
6	chr13:79968000-79977800	Weak transcription	Gastric	stomach
7	chr13:79968400-79977200	Weak transcription	Right Atrium	heart
8	chr13:79968400-79979200	Weak transcription	Lung	lung
9	chr13:79968600-79976600	Weak transcription	Colon Smooth Muscle	Colon
10	chr13:79968600-79977800	Weak transcription	Spleen	Spleen
11	chr13:79968600-79978600	Weak transcription	Placenta	Placenta
12	chr13:79968600-79978600	Weak transcription	Pancreas	Pancrea
13	chr13:79968600-79979200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:79969200-79977800	Weak transcription	Left Ventricle	heart
15	chr13:79969600-79977200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr13:79970200-79976600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr13:79970400-79977200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr13:79970400-79977800	Weak transcription	HSMMtube	muscle
19	chr13:79971000-79976800	Weak transcription	NH-A	brain
20	chr13:79971400-79979200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:79971600-79976600	Weak transcription	Fetal Lung	lung
22	chr13:79971600-79977400	Weak transcription	Fetal Kidney	kidney
23	chr13:79971600-79978800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr13:79971800-79976600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr13:79971800-79976600	Weak transcription	NHLF	lung
26	chr13:79971800-79976800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr13:79971800-79977400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr13:79971800-79977400	Weak transcription	Fetal Stomach	stomach
29	chr13:79971800-79977800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr13:79971800-79977800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr13:79971800-79977800	Weak transcription	Fetal Muscle Leg	muscle
32	chr13:79971800-79978600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr13:79972200-79977000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr13:79972200-79977800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr13:79973000-79978000	Enhancers	Fetal Brain Male	brain
36	chr13:79973400-79976600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:79973400-79976800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr13:79973400-79977400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr13:79974400-79977600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr13:79974400-79978600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr13:79974600-79976600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr13:79974600-79976600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr13:79974600-79976800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr13:79974600-79976800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr13:79974600-79977200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:79974600-79977600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr13:79974600-79977800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr13:79974600-79979200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:79974800-79976600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr13:79974800-79976600	Weak transcription	Primary T cells fromperipheralblood	blood

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