Variant report

Variant	rs41533449
Chromosome Location	chr1:56531423-56531424
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11206718	0.84[AFR][1000 genomes]
rs11206736	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11206747	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1156339	0.84[AFR][1000 genomes]
rs12118277	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12121236	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12125033	0.80[AFR][1000 genomes]
rs12125786	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12133795	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12136504	0.84[AFR][1000 genomes]
rs12137066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142826	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12143504	0.84[AFR][1000 genomes]
rs12143516	0.82[EUR][1000 genomes]
rs12144217	0.84[AFR][1000 genomes]
rs12145789	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12563043	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564930	0.84[AFR][1000 genomes]
rs12568575	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1304824	0.80[AFR][1000 genomes]
rs1331854	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1331857	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1331858	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1331859	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1412216	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55695312	0.84[AFR][1000 genomes]
rs61772108	0.92[AFR][1000 genomes]
rs61772129	0.92[AFR][1000 genomes]
rs61772130	0.92[AFR][1000 genomes]
rs6588598	0.84[AFR][1000 genomes]
rs6588599	0.84[AFR][1000 genomes]
rs6702275	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703713	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72675514	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72675530	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72675531	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72675540	0.81[ASN][1000 genomes]
rs72675552	0.83[EUR][1000 genomes]
rs72675557	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72675569	0.80[AFR][1000 genomes]
rs7523524	0.92[AFR][1000 genomes]
rs7547019	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs778125	0.81[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs41533449	DMRTB1	cis	cerebellum	SCAN
rs41533449	NRD1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56518200-56540000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:56521400-56534600	Weak transcription	Psoas Muscle	Psoas
3	chr1:56526200-56532000	Weak transcription	Aorta	Aorta
4	chr1:56526800-56533800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:56527600-56531800	Enhancers	HMEC	breast
6	chr1:56528000-56531800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:56529000-56531800	Enhancers	NHEK	skin
8	chr1:56529000-56532000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:56529200-56532200	Enhancers	NHLF	lung
10	chr1:56529200-56532400	Enhancers	HSMM	muscle
11	chr1:56529200-56532400	Enhancers	HSMMtube	muscle
12	chr1:56529200-56540400	Enhancers	NHDF-Ad	bronchial
13	chr1:56529400-56532000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:56529600-56532200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:56529800-56532000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:56529800-56532000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:56529800-56532000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:56529800-56532400	Enhancers	Osteobl	bone
19	chr1:56530200-56534600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:56530200-56535000	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:56530800-56532800	Enhancers	Placenta	Placenta
22	chr1:56530800-56533800	Weak transcription	Hela-S3	cervix
23	chr1:56531000-56531800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:56531000-56532200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:56531200-56531800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:56531400-56531800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:56531400-56531800	Weak transcription	Ovary	ovary
28	chr1:56531400-56532400	Enhancers	A549	lung

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