Variant report

Variant	rs4852306
Chromosome Location	chr2:73688784-73688785
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	chr2:73686152..73689083-chr2:73698075..73700708,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10189578	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10190002	0.81[EUR][1000 genomes]
rs1083919	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1083921	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1083922	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1083923	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10865398	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11126402	0.85[EUR][1000 genomes]
rs11688718	0.83[EUR][1000 genomes]
rs1246094	0.83[EUR][1000 genomes]
rs1246096	0.80[ASN][1000 genomes]
rs1246105	0.83[ASN][1000 genomes]
rs12995433	0.81[EUR][1000 genomes]
rs12996463	0.83[EUR][1000 genomes]
rs13009035	0.88[AFR][1000 genomes]
rs13386124	0.86[EUR][1000 genomes]
rs13399087	0.85[EUR][1000 genomes]
rs1528169	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1852647	0.82[ASN][1000 genomes]
rs1881246	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2091503	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2091504	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2178154	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2421545	0.82[ASN][1000 genomes]
rs2421546	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2421548	0.81[EUR][1000 genomes]
rs4852308	0.84[AFR][1000 genomes]
rs62153184	0.86[EUR][1000 genomes]
rs6546830	0.81[ASN][1000 genomes]
rs6546846	0.82[EUR][1000 genomes]
rs6722867	0.80[EUR][1000 genomes]
rs6729468	0.88[EUR][1000 genomes]
rs6730785	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6743576	0.80[EUR][1000 genomes]
rs6744697	0.87[EUR][1000 genomes]
rs6745560	0.84[AFR][1000 genomes]
rs6746971	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6749680	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6757996	0.83[EUR][1000 genomes]
rs7562047	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7566315	0.81[EUR][1000 genomes]
rs7585119	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7598901	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7606483	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7609249	0.80[EUR][1000 genomes]
rs780391	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs780393	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs780394	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs780395	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs780396	0.83[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4852306	TPRKB	Cis_1M	lymphoblastoid	RTeQTL
rs4852306	ALMS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73663800-73689400	Weak transcription	NHDF-Ad	bronchial
2	chr2:73675800-73688800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:73676200-73719400	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:73676800-73706400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:73677000-73698000	Weak transcription	Hela-S3	cervix
6	chr2:73677000-73714200	Weak transcription	Pancreas	Pancrea
7	chr2:73677200-73689000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:73677200-73689200	Weak transcription	Osteobl	bone
9	chr2:73678000-73706800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:73679200-73697000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:73679800-73692600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:73680000-73689600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:73680200-73706400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:73680200-73714200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:73680400-73689200	Weak transcription	NH-A	brain
16	chr2:73681600-73706800	Weak transcription	HSMM	muscle
17	chr2:73682800-73689000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:73683000-73706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:73685400-73689000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:73685800-73691000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:73686000-73689200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:73686000-73689600	Weak transcription	A549	lung
23	chr2:73686400-73690200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:73687000-73706200	Weak transcription	Primary T cells from cord blood	blood
25	chr2:73687000-73706400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:73687200-73688800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:73687200-73689400	Weak transcription	Fetal Brain Male	brain
28	chr2:73687400-73689000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:73687400-73689400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:73687400-73697400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:73687600-73689400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:73687600-73689400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:73687800-73689400	Weak transcription	Left Ventricle	heart
34	chr2:73687800-73700600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:73688000-73714200	Weak transcription	Ovary	ovary
36	chr2:73688600-73706200	Weak transcription	Fetal Lung	lung

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