Variant report

Variant	rs1748763
Chromosome Location	chr13:79982100-79982101
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	chr13:79976521-79982167	GM12891	blood:	n/a	n/a
2	POLR2A	chr13:79979168-79982244	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr13:79978483-79982627	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr13:79982086-79982156	HepG2	liver:	n/a	n/a
5	POLR2A	chr13:79980131-79984465	K562	blood:	n/a	n/a
6	POLR2A	chr13:79979188-79982271	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:79980707..79982787-chr13:79986192..79988065,2	MCF-7	breast:
2	chr13:79979196..79982246-chr13:80054691..80057070,3	MCF-7	breast:
3	chr13:79981741..79983369-chr13:80090853..80093703,2	K562	blood:

Variant related genes	Relation type
RBM26	TF binding region
ENSG00000102471	Chromatin interaction
ENSG00000232132	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs11620233	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12877507	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1324868	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1590465	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1616547	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1619669	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1624537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1748761	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748769	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1749982	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1853830	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1886494	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1980764	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2031815	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2095477	0.95[ASN][1000 genomes]
rs2147568	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2182009	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2265377	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2265378	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2265381	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2265382	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2296287	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477395	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2477397	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2484345	0.98[ASN][1000 genomes]
rs2763809	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2763810	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2765078	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2876740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs314689	0.89[ASN][1000 genomes]
rs314690	0.91[ASN][1000 genomes]
rs314692	0.98[ASN][1000 genomes]
rs314693	0.98[ASN][1000 genomes]
rs314694	0.98[ASN][1000 genomes]
rs314695	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35476664	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3742120	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3742122	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3764150	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4146473	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs416660	0.98[ASN][1000 genomes]
rs418150	0.98[ASN][1000 genomes]
rs4605023	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57821487	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs586219	0.98[ASN][1000 genomes]
rs643778	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6563100	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6563104	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7321186	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7322901	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7323246	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7328494	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7329331	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7330479	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7331525	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7331766	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7331867	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7331872	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7336186	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7336581	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7336939	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7336979	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7338678	0.95[ASN][1000 genomes]
rs7981500	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7986306	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7987193	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7990321	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8001281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8001308	0.91[ASN][1000 genomes]
rs8001392	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8001622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8001795	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8002838	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs912639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9318638	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9318640	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9318641	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9530913	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530914	0.94[ASN][1000 genomes]
rs9530915	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9530917	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9530920	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9545097	0.94[ASN][1000 genomes]
rs9545101	0.94[ASN][1000 genomes]
rs9545104	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545106	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545108	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9545109	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9545113	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9545114	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9565496	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9565497	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9565500	0.96[ASN][1000 genomes]
rs9574416	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9574418	0.94[ASN][1000 genomes]
rs9574419	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9574420	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9574422	0.98[ASN][1000 genomes]
rs9593396	0.94[ASN][1000 genomes]
rs9601226	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9601227	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1748763	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79980800-80007200	Weak transcription	Spleen	Spleen
2	chr13:79981000-79983400	Weak transcription	Small Intestine	intestine
3	chr13:79981000-79987000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:79981000-79987400	Weak transcription	Left Ventricle	heart
5	chr13:79981000-79987600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:79981000-79989600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:79981000-79991200	Weak transcription	Pancreas	Pancrea
8	chr13:79981000-79997400	Weak transcription	Lung	lung
9	chr13:79981000-79997600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:79981000-79998000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr13:79981000-79998000	Weak transcription	Ovary	ovary
12	chr13:79981000-80007200	Weak transcription	Aorta	Aorta
13	chr13:79981200-79982200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr13:79981200-79982400	Enhancers	Fetal Lung	lung
15	chr13:79981200-79982400	Enhancers	Stomach Mucosa	stomach
16	chr13:79981200-79982600	Enhancers	Gastric	stomach
17	chr13:79981200-79987600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr13:79981200-79991000	Weak transcription	Placenta	Placenta
19	chr13:79981200-79995800	Weak transcription	HSMMtube	muscle
20	chr13:79981200-79997600	Weak transcription	Fetal Muscle Leg	muscle
21	chr13:79981200-80010200	Weak transcription	Right Ventricle	heart
22	chr13:79981400-79982200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr13:79981400-79982200	Enhancers	Fetal Heart	heart
24	chr13:79981400-79982200	Enhancers	Fetal Intestine Large	intestine
25	chr13:79981400-79982600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr13:79981400-79982600	Flanking Active TSS	GM12878-XiMat	blood
27	chr13:79981400-79983000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr13:79981400-79987000	Weak transcription	Fetal Stomach	stomach
29	chr13:79981400-79989400	Weak transcription	Brain Substantia Nigra	brain
30	chr13:79981400-79997800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr13:79981400-80000200	Weak transcription	Psoas Muscle	Psoas
32	chr13:79981600-79982200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:79981600-79982200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr13:79981600-79982200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:79981600-79982200	Enhancers	Brain Anterior Caudate	brain
36	chr13:79981600-79982400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr13:79981600-79982600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:79981600-79982600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr13:79981600-79982600	Enhancers	HMEC	breast
40	chr13:79981600-79982800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:79981600-79982800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr13:79981600-79983400	Weak transcription	Fetal Intestine Small	intestine
43	chr13:79981600-79983800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr13:79981600-79987000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr13:79981600-79987400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr13:79981600-79987600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr13:79981600-79987800	Weak transcription	Primary T cells from cord blood	blood
48	chr13:79981600-79987800	Weak transcription	NHDF-Ad	bronchial
49	chr13:79981600-79988400	Weak transcription	Thymus	Thymus
50	chr13:79981600-79989400	Weak transcription	Fetal Brain Male	brain

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