Variant report

Variant	rs1749982
Chromosome Location	chr13:79952795-79952796
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:79944448..79946891-chr13:79951431..79952941,2	MCF-7	breast:

Extended variants
information (count: 113 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1022891	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11620233	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12872328	0.80[EUR][1000 genomes]
rs12877507	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1324868	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1590465	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1616547	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1619669	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1624537	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1748761	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1748762	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1748763	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1748769	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1853830	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1886494	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1980764	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2031815	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2095477	0.88[ASN][1000 genomes]
rs2147568	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2182009	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2182010	0.80[EUR][1000 genomes]
rs2265377	0.92[ASN][1000 genomes]
rs2265378	0.92[ASN][1000 genomes]
rs2265381	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2265382	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2296287	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2477395	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2477397	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2484345	0.92[ASN][1000 genomes]
rs2763809	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2763810	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2765078	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2876740	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs314689	0.84[ASN][1000 genomes]
rs314690	0.87[ASN][1000 genomes]
rs314692	0.92[ASN][1000 genomes]
rs314693	0.92[ASN][1000 genomes]
rs314694	0.92[ASN][1000 genomes]
rs314695	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35476664	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742120	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3742122	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3764150	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4146473	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs416660	0.92[ASN][1000 genomes]
rs418150	0.92[ASN][1000 genomes]
rs4605023	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57821487	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs586219	0.92[ASN][1000 genomes]
rs643778	0.92[ASN][1000 genomes]
rs6563100	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6563104	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7321186	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7322901	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7323246	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7328494	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7329331	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7330479	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7331525	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7331766	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7331867	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7331872	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7336186	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7336581	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7336939	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7336979	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7338678	0.89[ASN][1000 genomes]
rs7981500	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7986306	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7987193	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7990321	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8001281	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8001308	0.85[ASN][1000 genomes]
rs8001392	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8001622	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8001795	0.92[ASN][1000 genomes]
rs8002838	0.92[ASN][1000 genomes]
rs912639	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9318633	0.80[EUR][1000 genomes]
rs9318634	0.80[EUR][1000 genomes]
rs9318638	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9318640	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9318641	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9530906	0.80[EUR][1000 genomes]
rs9530913	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9530914	0.95[ASN][1000 genomes]
rs9530915	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530917	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9530920	0.92[ASN][1000 genomes]
rs9545092	0.80[EUR][1000 genomes]
rs9545093	0.80[EUR][1000 genomes]
rs9545097	0.95[ASN][1000 genomes]
rs9545101	0.95[ASN][1000 genomes]
rs9545104	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9545106	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9545108	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9545109	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9545113	0.92[ASN][1000 genomes]
rs9545114	0.92[ASN][1000 genomes]
rs9565496	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9565497	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9565500	0.90[ASN][1000 genomes]
rs9574416	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9574418	0.95[ASN][1000 genomes]
rs9574419	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9574420	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9574422	0.92[ASN][1000 genomes]
rs9593396	0.94[ASN][1000 genomes]
rs9601226	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9601227	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900586	chr13:79892722-79968467	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv900587	chr13:79894736-79956691	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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
rs1749982	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	chr13:79893200-79957800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:79941800-79956600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr13:79942000-79967400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:79943000-79957800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:79946000-79960000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:79946400-79969200	Weak transcription	Fetal Kidney	kidney
7	chr13:79946800-79954600	Weak transcription	Colonic Mucosa	Colon
8	chr13:79947800-79952800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:79947800-79953200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr13:79947800-79953200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr13:79947800-79953400	Strong transcription	GM12878-XiMat	blood
12	chr13:79947800-79953600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:79947800-79953600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr13:79947800-79954200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:79947800-79954400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr13:79947800-79955600	Strong transcription	Dnd41	blood
17	chr13:79948000-79952800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr13:79948000-79952800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:79948000-79953000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
20	chr13:79948000-79953000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr13:79948000-79953200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr13:79948000-79953200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:79948000-79953200	Strong transcription	Fetal Thymus	thymus
24	chr13:79948000-79953200	Strong transcription	HSMM	muscle
25	chr13:79948000-79953400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr13:79948000-79954400	Strong transcription	Primary B cells from cord blood	blood
27	chr13:79948200-79952800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:79948200-79952800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr13:79948200-79952800	Strong transcription	Fetal Stomach	stomach
30	chr13:79948200-79953000	Strong transcription	Liver	Liver
31	chr13:79948200-79953000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr13:79948200-79953000	Strong transcription	Fetal Muscle Leg	muscle
33	chr13:79948200-79953400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr13:79948200-79953600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr13:79948200-79953600	Strong transcription	Fetal Intestine Small	intestine
36	chr13:79948200-79954400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr13:79948200-79954600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr13:79948600-79954400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr13:79948800-79953000	Strong transcription	Brain Anterior Caudate	brain
40	chr13:79948800-79953200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:79949000-79953400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr13:79949400-79953400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr13:79949400-79953600	Strong transcription	HUVEC	blood vessel
44	chr13:79949600-79952800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr13:79949600-79953000	Strong transcription	Placenta	Placenta
46	chr13:79949600-79953200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:79949600-79953600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:79950000-79953400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr13:79950000-79953600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr13:79950200-79954200	Strong transcription	K562	blood

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