Variant report

Variant	rs12525986
Chromosome Location	chr6:131293308-131293309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131288021..131290598-chr6:131292488..131295330,3	K562	blood:
2	chr6:131287420..131290006-chr6:131292145..131295330,3	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs12525104	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13437326	0.89[EUR][1000 genomes]
rs17178878	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17179123	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17180687	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17180867	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17784418	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17784472	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17784896	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17785507	0.89[EUR][1000 genomes]
rs1811949	1.00[ASN][1000 genomes]
rs1977576	0.95[ASN][1000 genomes]
rs2095961	0.82[ASN][1000 genomes]
rs2297853	1.00[ASN][1000 genomes]
rs28482889	0.89[EUR][1000 genomes]
rs34899420	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4895901	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4895903	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4895904	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4895906	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4895907	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4895908	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4895909	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897477	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4897478	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4897483	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4897484	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897485	0.89[EUR][1000 genomes]
rs4897486	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897487	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897489	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897491	0.89[ASN][1000 genomes]
rs55898152	0.89[ASN][1000 genomes]
rs56163502	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56173113	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56201801	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58503799	0.89[EUR][1000 genomes]
rs62422362	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62422365	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62422380	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62423581	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62423597	0.94[EUR][1000 genomes]
rs62423598	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6906059	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6910656	0.82[ASN][1000 genomes]
rs6916024	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6921396	1.00[ASN][1000 genomes]
rs6922045	1.00[ASN][1000 genomes]
rs6922177	0.82[ASN][1000 genomes]
rs6926250	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6928920	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6931804	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6935108	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7741148	1.00[ASN][1000 genomes]
rs7755720	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7758016	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7769678	1.00[ASN][1000 genomes]
rs7771543	1.00[ASN][1000 genomes]
rs9321263	0.82[ASN][1000 genomes]
rs9372985	0.82[ASN][1000 genomes]
rs9385568	1.00[ASN][1000 genomes]
rs9388872	0.82[ASN][1000 genomes]
rs9402303	1.00[ASN][1000 genomes]
rs9483206	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs954211	0.88[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12525986	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131253000-131302200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:131267000-131294800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:131272200-131301000	Weak transcription	Placenta	Placenta
4	chr6:131286200-131293600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:131288200-131306600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:131289000-131294800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:131289200-131294800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:131289200-131294800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:131289400-131296400	Weak transcription	HUVEC	blood vessel
10	chr6:131289600-131298200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:131289600-131300800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:131289800-131294400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:131289800-131294800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:131289800-131298000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:131290200-131294800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:131291200-131294800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:131291600-131293600	Weak transcription	Brain Substantia Nigra	brain
18	chr6:131291600-131298000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:131291600-131299200	Weak transcription	Pancreas	Pancrea
20	chr6:131291600-131299400	Weak transcription	Right Atrium	heart
21	chr6:131291800-131294800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:131291800-131306200	Weak transcription	Fetal Intestine Small	intestine
23	chr6:131292000-131295000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:131292000-131299400	Weak transcription	Brain Anterior Caudate	brain
25	chr6:131292200-131298200	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:131292400-131296200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:131292400-131296400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:131292400-131298400	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:131292400-131299600	Weak transcription	Fetal Stomach	stomach
30	chr6:131292400-131299800	Weak transcription	Left Ventricle	heart
31	chr6:131292400-131306400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:131292600-131294800	Weak transcription	K562	blood
33	chr6:131292600-131296400	Weak transcription	NHDF-Ad	bronchial
34	chr6:131292600-131299400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:131292800-131295000	Weak transcription	HepG2	liver
36	chr6:131292800-131296000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:131292800-131296000	Weak transcription	HSMM	muscle
38	chr6:131292800-131299200	Weak transcription	Fetal Lung	lung
39	chr6:131292800-131299400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:131292800-131302000	Weak transcription	NHLF	lung

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