Variant report

Variant	rs2091504
Chromosome Location	chr2:73687794-73687795
allele	A/C
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: 84 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10189578	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10190002	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10192125	0.87[ASN][1000 genomes]
rs10519309	0.82[ASN][1000 genomes]
rs1052161	0.83[EUR][1000 genomes]
rs1083919	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1083920	0.80[ASN][1000 genomes]
rs1083921	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1083922	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1083923	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10865398	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1091568	0.80[ASN][1000 genomes]
rs11126402	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11688718	0.91[EUR][1000 genomes]
rs1246094	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1246096	0.84[ASN][1000 genomes]
rs1246105	0.86[ASN][1000 genomes]
rs12713783	0.87[ASN][1000 genomes]
rs12995433	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12996463	0.92[EUR][1000 genomes]
rs13009035	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1320374	0.83[EUR][1000 genomes]
rs13386124	0.92[EUR][1000 genomes]
rs13399087	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1406105	0.84[ASN][1000 genomes]
rs1528169	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1852645	0.86[ASN][1000 genomes]
rs1852646	0.85[ASN][1000 genomes]
rs1852647	0.89[ASN][1000 genomes]
rs1881246	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1881247	0.84[ASN][1000 genomes]
rs1881248	0.83[ASN][1000 genomes]
rs2037814	0.88[ASN][1000 genomes]
rs2091503	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2178154	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2421545	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2421546	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2421548	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2421667	0.83[EUR][1000 genomes]
rs3820700	0.82[ASN][1000 genomes]
rs4346412	0.82[EUR][1000 genomes]
rs4852306	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4852308	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4852927	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4852930	0.85[AFR][1000 genomes]
rs56770679	0.82[ASN][1000 genomes]
rs62153184	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6546830	0.90[ASN][1000 genomes]
rs6546831	0.84[ASN][1000 genomes]
rs6546832	0.85[ASN][1000 genomes]
rs6546833	0.84[ASN][1000 genomes]
rs6546834	0.87[ASN][1000 genomes]
rs6546842	0.82[ASN][1000 genomes]
rs6546846	0.88[EUR][1000 genomes]
rs6722867	0.86[EUR][1000 genomes]
rs6729468	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6730785	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6732440	0.83[EUR][1000 genomes]
rs6734450	0.84[ASN][1000 genomes]
rs6743576	0.86[EUR][1000 genomes]
rs6744697	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6745560	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6746458	0.87[ASN][1000 genomes]
rs6746971	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6749680	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6757996	0.90[EUR][1000 genomes]
rs6759464	0.87[ASN][1000 genomes]
rs67898050	0.82[ASN][1000 genomes]
rs68154245	0.83[ASN][1000 genomes]
rs7562047	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7566315	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7585119	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7598901	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7606483	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7609249	0.86[EUR][1000 genomes]
rs780388	0.82[ASN][1000 genomes]
rs780389	0.82[ASN][1000 genomes]
rs780390	0.80[ASN][1000 genomes]
rs780391	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs780393	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs780394	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs780395	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs780396	0.86[ASN][1000 genomes]
rs802113	0.82[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2091504	TPRKB	Cis_1M	lymphoblastoid	RTeQTL
rs2091504	ALMS1P	cis	Whole Blood	GTEx
rs2091504	ALMS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73652200-73688400	Weak transcription	Colonic Mucosa	Colon
2	chr2:73663800-73689400	Weak transcription	NHDF-Ad	bronchial
3	chr2:73675800-73688800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:73676200-73719400	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:73676800-73688000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:73676800-73706400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:73677000-73688000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:73677000-73688400	Weak transcription	Psoas Muscle	Psoas
9	chr2:73677000-73698000	Weak transcription	Hela-S3	cervix
10	chr2:73677000-73714200	Weak transcription	Pancreas	Pancrea
11	chr2:73677200-73689000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:73677200-73689200	Weak transcription	Osteobl	bone
13	chr2:73677800-73688200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:73678000-73688400	Weak transcription	Spleen	Spleen
15	chr2:73678000-73706800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:73678600-73688400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:73678800-73688400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:73679200-73697000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:73679600-73688000	Weak transcription	HSMMtube	muscle
20	chr2:73679800-73692600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:73680000-73689600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:73680200-73706400	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:73680200-73714200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:73680400-73688600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:73680400-73689200	Weak transcription	NH-A	brain
26	chr2:73681000-73688600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:73681600-73706800	Weak transcription	HSMM	muscle
28	chr2:73682400-73688000	Strong transcription	Ovary	ovary
29	chr2:73682600-73688400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:73682800-73689000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:73683000-73706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:73683400-73688600	Weak transcription	Adipose Nuclei	Adipose
33	chr2:73684200-73688000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:73684200-73688000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr2:73684600-73688000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr2:73684600-73688000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:73685200-73687800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr2:73685200-73688000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr2:73685200-73688600	ZNF genes & repeats	Fetal Lung	lung
40	chr2:73685400-73688000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr2:73685400-73688000	ZNF genes & repeats	Dnd41	blood
42	chr2:73685400-73689000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:73685600-73687800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:73685600-73687800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:73685600-73687800	Strong transcription	Left Ventricle	heart
46	chr2:73685600-73688400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:73685600-73688600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr2:73685800-73691000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:73686000-73689200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:73686000-73689600	Weak transcription	A549	lung

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