Variant report

Variant	rs7330479
Chromosome Location	chr13:79959193-79959194
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:79958743..79963128-chr13:79965623..79969929,4	K562	blood:
2	chr13:79955549..79959842-chr13:79960157..79964525,5	K562	blood:
3	chr13:79959086..79961108-chr13:80114740..80116640,2	K562	blood:

Variant related genes	Relation type
ENSG00000252496	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1022891	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11620233	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12877507	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1324868	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1590465	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1616547	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1619669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1624537	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1748761	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748762	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748763	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748769	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1749982	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1853830	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1886494	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980764	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2031815	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2095477	0.92[ASN][1000 genomes]
rs2147568	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2182009	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2265377	0.95[ASN][1000 genomes]
rs2265378	0.95[ASN][1000 genomes]
rs2265381	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2265382	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2296287	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2477395	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2477397	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2484345	0.95[ASN][1000 genomes]
rs2763809	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2763810	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2765078	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2876740	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs314689	0.86[ASN][1000 genomes]
rs314690	0.88[ASN][1000 genomes]
rs314692	0.95[ASN][1000 genomes]
rs314693	0.95[ASN][1000 genomes]
rs314694	0.95[ASN][1000 genomes]
rs314695	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35476664	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3742120	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742122	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3764150	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4146473	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs416660	0.95[ASN][1000 genomes]
rs418150	0.95[ASN][1000 genomes]
rs4605023	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57821487	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs586219	0.95[ASN][1000 genomes]
rs643778	0.95[ASN][1000 genomes]
rs6563100	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6563104	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7321186	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7322901	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7323246	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7328494	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7329331	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331525	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7331766	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331867	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7331872	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7336186	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7336581	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7336939	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7336979	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7338678	0.93[ASN][1000 genomes]
rs7981500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986306	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7987193	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7990321	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8001281	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8001308	0.88[ASN][1000 genomes]
rs8001392	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8001622	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8001795	0.95[ASN][1000 genomes]
rs8002838	0.95[ASN][1000 genomes]
rs912639	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9318638	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9318640	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9318641	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9530913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530914	0.99[ASN][1000 genomes]
rs9530915	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9530917	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9530920	0.95[ASN][1000 genomes]
rs9545097	0.99[ASN][1000 genomes]
rs9545101	0.99[ASN][1000 genomes]
rs9545104	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545106	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545108	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545109	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9545113	0.95[ASN][1000 genomes]
rs9545114	0.95[ASN][1000 genomes]
rs9565496	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9565497	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9565500	0.94[ASN][1000 genomes]
rs9574416	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9574418	0.99[ASN][1000 genomes]
rs9574419	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9574420	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9574422	0.95[ASN][1000 genomes]
rs9593396	0.98[ASN][1000 genomes]
rs9601226	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9601227	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[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	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	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
rs7330479	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79942000-79967400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:79946000-79960000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:79946400-79969200	Weak transcription	Fetal Kidney	kidney
4	chr13:79951200-79959800	Weak transcription	Fetal Heart	heart
5	chr13:79951200-79962200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:79951200-79979200	Weak transcription	Esophagus	oesophagus
7	chr13:79951400-79959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr13:79951400-79960000	Weak transcription	NHDF-Ad	bronchial
9	chr13:79951400-79962200	Weak transcription	Lung	lung
10	chr13:79951600-79960000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:79951600-79960000	Weak transcription	NH-A	brain
12	chr13:79951600-79965400	Weak transcription	Brain Angular Gyrus	brain
13	chr13:79951600-79969000	Weak transcription	Fetal Brain Male	brain
14	chr13:79951800-79960000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:79951800-79961800	Weak transcription	Brain Germinal Matrix	brain
16	chr13:79951800-79978200	Weak transcription	Aorta	Aorta
17	chr13:79952000-79967200	Weak transcription	Brain Hippocampus Middle	brain
18	chr13:79952000-79967600	Weak transcription	Gastric	stomach
19	chr13:79952200-79960000	Weak transcription	Ovary	ovary
20	chr13:79952200-79967600	Weak transcription	Pancreas	Pancrea
21	chr13:79952200-79967600	Weak transcription	Spleen	Spleen
22	chr13:79952400-79960000	Weak transcription	NHLF	lung
23	chr13:79952400-79960000	Weak transcription	Osteobl	bone
24	chr13:79952400-79962200	Weak transcription	Psoas Muscle	Psoas
25	chr13:79952400-79963000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr13:79952400-79963600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr13:79952400-79966800	Weak transcription	Thymus	Thymus
28	chr13:79952400-79967000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr13:79952400-79967200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr13:79952400-79967200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr13:79952400-79967200	Weak transcription	Fetal Lung	lung
32	chr13:79952400-79967400	Weak transcription	Fetal Brain Female	brain
33	chr13:79952400-79967600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:79952400-79967600	Weak transcription	Left Ventricle	heart
35	chr13:79952400-79967600	Weak transcription	Right Ventricle	heart
36	chr13:79952400-79967800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:79952600-79966800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:79952600-79977800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr13:79952800-79960000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr13:79952800-79966800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr13:79952800-79966800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr13:79952800-79967200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr13:79952800-79967200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:79952800-79967800	Weak transcription	Fetal Stomach	stomach
45	chr13:79953000-79961400	Weak transcription	Liver	Liver
46	chr13:79953000-79967200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr13:79953000-79967200	Weak transcription	Fetal Muscle Leg	muscle
48	chr13:79953000-79967400	Weak transcription	Placenta	Placenta
49	chr13:79953200-79959600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:79953200-79960200	Weak transcription	HSMM	muscle

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