Variant report

Variant	rs4605023
Chromosome Location	chr13:79972835-79972836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:79972223..79975037-chr13:79978847..79982091,3	MCF-7	breast:
2	chr13:79966275..79969690-chr13:79971723..79976630,6	K562	blood:

Variant related genes	Relation type
ENSG00000139746	Chromatin interaction
ENSG00000227354	Chromatin interaction

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	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12877507	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324868	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1590465	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1616547	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1619669	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1624537	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1627031	0.86[AFR][1000 genomes]
rs1748761	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748762	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748763	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748769	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1749982	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1853830	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1886494	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980764	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2031815	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2095477	0.91[ASN][1000 genomes]
rs2147568	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2182009	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2265382	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2296287	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2477395	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2477397	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2484345	0.95[ASN][1000 genomes]
rs2763809	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2763810	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2765078	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2876740	0.99[AMR][1000 genomes];0.97[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];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35476664	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3742120	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742122	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3764150	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4146473	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs416660	0.95[ASN][1000 genomes]
rs418150	0.95[ASN][1000 genomes]
rs57821487	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs586219	0.95[ASN][1000 genomes]
rs643778	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6563100	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563104	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7321186	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7322901	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7323246	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7328494	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7329331	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7330479	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7331525	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7331766	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7331867	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7331872	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336186	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336581	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336939	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7336979	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7986306	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7987193	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7990321	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8001281	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8001308	0.87[ASN][1000 genomes]
rs8001392	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8001622	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8001795	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8002838	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs912639	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9318638	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9318640	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9318641	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530913	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9530914	0.98[ASN][1000 genomes]
rs9530915	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9530917	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530920	0.80[AMR][1000 genomes];0.81[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];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9545106	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9545108	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545109	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545113	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545114	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9565496	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565497	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9565500	0.93[ASN][1000 genomes]
rs9574416	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9574418	0.98[ASN][1000 genomes]
rs9574419	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9574420	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9574422	0.95[ASN][1000 genomes]
rs9593396	0.97[ASN][1000 genomes]
rs9601226	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9601227	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[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
rs4605023	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 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	chr13:79960600-79975600	Weak transcription	Ovary	ovary
6	chr13:79962800-79973000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:79962800-79974400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr13:79968000-79973000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr13:79968000-79975200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr13:79968000-79975800	Weak transcription	HMEC	breast
11	chr13:79968000-79976600	Weak transcription	Right Ventricle	heart
12	chr13:79968000-79977800	Weak transcription	Gastric	stomach
13	chr13:79968200-79973400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:79968200-79974400	Weak transcription	Brain Angular Gyrus	brain
15	chr13:79968200-79974600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr13:79968200-79975600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr13:79968400-79975800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr13:79968400-79977200	Weak transcription	Right Atrium	heart
19	chr13:79968400-79979200	Weak transcription	Lung	lung
20	chr13:79968600-79973000	Weak transcription	Adipose Nuclei	Adipose
21	chr13:79968600-79973000	Weak transcription	Liver	Liver
22	chr13:79968600-79973000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr13:79968600-79975600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr13:79968600-79976600	Weak transcription	Colon Smooth Muscle	Colon
25	chr13:79968600-79977800	Weak transcription	Spleen	Spleen
26	chr13:79968600-79978600	Weak transcription	Placenta	Placenta
27	chr13:79968600-79978600	Weak transcription	Pancreas	Pancrea
28	chr13:79968600-79979200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:79968800-79974600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:79969000-79973200	Weak transcription	Small Intestine	intestine
31	chr13:79969000-79976000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:79969200-79973200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:79969200-79975400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr13:79969200-79975600	Weak transcription	Psoas Muscle	Psoas
35	chr13:79969200-79975600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr13:79969200-79975800	Strong transcription	Fetal Thymus	thymus
37	chr13:79969200-79977800	Weak transcription	Left Ventricle	heart
38	chr13:79969400-79974400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr13:79969600-79977200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr13:79970000-79974200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr13:79970000-79975000	Strong transcription	HUVEC	blood vessel
42	chr13:79970200-79973000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr13:79970200-79975200	Weak transcription	Brain Hippocampus Middle	brain
44	chr13:79970200-79976600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr13:79970400-79973000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr13:79970400-79974000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr13:79970400-79974200	Weak transcription	Hela-S3	cervix
48	chr13:79970400-79974800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr13:79970400-79974800	Strong transcription	A549	lung
50	chr13:79970400-79975600	Weak transcription	Thymus	Thymus

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