Variant report

Variant	rs9601226
Chromosome Location	chr13:79977535-79977536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:79976521-79982167	GM12891	blood:	n/a	n/a
2	POLR2A	chr13:79977526-79977539	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr13:79977269-79977666	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr13:79977452-79977753	MCF10A-Er-Src	breast:	n/a	n/a
5	MXI1	chr13:79977113-79977903	GM12878	blood:	n/a	n/a
6	KAP1	chr13:79976706-79977981	U2OS	brain:	n/a	chr13:79976976-79976985

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:79977499-79977549	HNPCEpiC	eye:	n/a
2	chr13:79977499-79977549	LNCaP	prostate:	n/a
3	chr13:79977499-79977549	HRPEpiC	eye:	n/a
4	chr13:79977499-79977549	ProgFib	skin:	n/a
5	chr13:79977499-79977549	GM12892	blood:	n/a
6	chr13:79977499-79977549	HCM	heart:	n/a
7	chr13:79977499-79977549	AG04450	lung:	fetal
8	chr13:79977499-79977549	Caco-2	colon:	n/a
9	chr13:79977499-79977549	A549	lung:	n/a
10	chr13:79977499-79977549	K562	blood:	n/a
11	chr13:79977499-79977549	Hepatocyte	liver:	n/a
12	chr13:79977499-79977549	BE2_C	brain:	n/a
13	chr13:79977499-79977549	AG09309	skin:	n/a
14	chr13:79977499-79977549	SK-N-MC	brain:	n/a
15	chr13:79977499-79977549	GM12878	blood:	n/a
16	chr13:79977499-79977549	NH-A	brain:	n/a
17	chr13:79977499-79977549	NB4	blood:	n/a
18	chr13:79977499-79977549	ovcar-3	ovarian:	n/a
19	chr13:79977499-79977549	SAEC	small airway:	n/a
20	chr13:79977499-79977549	CMK	blood:	n/a
21	chr13:79977499-79977549	SK-N-SH	brain:	n/a
22	chr13:79977499-79977549	AoSMC	blood vessel:	n/a
23	chr13:79977499-79977549	Jurkat	blood:	n/a
24	chr13:79977499-79977549	HAEpiC	amniotic membrane:	n/a
25	chr13:79977499-79977549	PrEC	prostate:	n/a
26	chr13:79977499-79977549	ECC-1	luminal epithelium:	n/a
27	chr13:79977499-79977549	PANC-1	pancreas:	n/a
28	chr13:79977499-79977549	HCF	heart:	n/a
29	chr13:79977499-79977549	HCPEpiC	choroid plexus:	n/a
30	chr13:79977499-79977549	PFSK-1	brain:	n/a
31	chr13:79977499-79977549	H1-hESC	embryonic stem cell:	embryo
32	chr13:79977499-79977549	HepG2	liver:	n/a
33	chr13:79977499-79977549	HCT-116	colon:	n/a
34	chr13:79977499-79977549	GM06990	blood:	n/a
35	chr13:79977499-79977549	MCF-7	breast:	n/a
36	chr13:79977499-79977549	HEK293	kidney:	embryo
37	chr13:79977499-79977549	RPTEC	kidney:	n/a
38	chr13:79977499-79977549	AG09319	gingival:	n/a
39	chr13:79977499-79977549	NHDF-neo	bronchial:	n/a
40	chr13:79977499-79977549	NHBE	bronchial:	n/a
41	chr13:79977499-79977549	HIPEpiC	eye:	n/a
42	chr13:79977499-79977549	SK-N-SH_RA	brain:	n/a
43	chr13:79977499-79977549	HRCEpiC	kidney:	n/a
44	chr13:79977499-79977549	GM19239	blood:	n/a
45	chr13:79977499-79977549	SKMC	muscle:	n/a
46	chr13:79977499-79977549	T-47D	breast:	n/a
47	chr13:79977499-79977549	MCF10A-Er-Src	breast:	n/a
48	chr13:79977499-79977549	IMR90	lung:	fetal
49	chr13:79977499-79977549	AG04449	skin:	fetal
50	chr13:79977499-79977549	AG10803	skin:	n/a

(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
RBM26-AS1	CpG island

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]
rs9574419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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]
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
rs9601226	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	chr13:79952600-79977800	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	chr13:79968400-79979200	Weak transcription	Lung	lung
7	chr13:79968600-79977800	Weak transcription	Spleen	Spleen
8	chr13:79968600-79978600	Weak transcription	Placenta	Placenta
9	chr13:79968600-79978600	Weak transcription	Pancreas	Pancrea
10	chr13:79968600-79979200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:79969200-79977800	Weak transcription	Left Ventricle	heart
12	chr13:79970400-79977800	Weak transcription	HSMMtube	muscle
13	chr13:79971400-79979200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:79971600-79978800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr13:79971800-79977800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:79971800-79977800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr13:79971800-79977800	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:79971800-79978600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr13:79972200-79977800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr13:79973000-79978000	Enhancers	Fetal Brain Male	brain
21	chr13:79974400-79977600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr13:79974400-79978600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr13:79974600-79977600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr13:79974600-79977800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr13:79974600-79979200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:79975000-79977600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr13:79975000-79977800	Enhancers	Liver	Liver
28	chr13:79975400-79977800	Enhancers	Primary B cells from peripheral blood	blood
29	chr13:79975400-79977800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr13:79975400-79977800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr13:79975600-79977600	Enhancers	Adipose Nuclei	Adipose
32	chr13:79975600-79977800	Enhancers	Brain Substantia Nigra	brain
33	chr13:79975600-79977800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr13:79975600-79977800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr13:79975600-79978800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr13:79975800-79977800	Weak transcription	Fetal Thymus	thymus
37	chr13:79975800-79977800	Enhancers	HMEC	breast
38	chr13:79975800-79978600	Enhancers	Stomach Mucosa	stomach
39	chr13:79975800-79979600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:79976000-79977800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:79976200-79977800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr13:79976200-79977800	Flanking Active TSS	A549	lung
43	chr13:79976200-79981600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr13:79976400-79978000	Enhancers	Fetal Intestine Large	intestine
45	chr13:79976400-79979000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr13:79976600-79977600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr13:79976600-79977800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr13:79976600-79978000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:79976600-79978000	Enhancers	Colon Smooth Muscle	Colon
50	chr13:79976600-79978400	Flanking Active TSS	Fetal Brain Female	brain

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