Variant report

Variant	rs1083919
Chromosome Location	chr2:73713863-73713864
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10165862	0.92[CHB][hapmap];0.87[JPT][hapmap]
rs10189578	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10190002	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10207970	0.80[EUR][1000 genomes]
rs1052161	1.00[CEU][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes]
rs1083920	0.92[ASN][1000 genomes]
rs1083921	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1083922	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1083923	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10865398	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1091568	0.90[ASN][1000 genomes]
rs11126399	0.92[CHB][hapmap]
rs11126402	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11685372	0.80[ASN][1000 genomes]
rs11688718	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1246094	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1246096	0.84[ASN][1000 genomes]
rs1246105	0.84[ASN][1000 genomes]
rs12465867	0.92[CHB][hapmap]
rs12618600	0.96[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap]
rs12620018	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs12620091	0.80[CEU][hapmap]
rs12991161	1.00[CEU][hapmap]
rs12995433	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12996463	0.90[EUR][1000 genomes]
rs13009035	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13017182	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs13027816	1.00[CEU][hapmap]
rs1320374	1.00[CEU][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes]
rs13386124	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13399087	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1403412	0.92[CHB][hapmap]
rs1406105	0.83[CHB][hapmap]
rs1528169	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1852647	0.92[CHB][hapmap];0.87[JPT][hapmap]
rs1881246	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1881247	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2017116	0.92[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs2037814	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs2091503	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2091504	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2178154	0.93[EUR][1000 genomes]
rs2421489	0.84[CHB][hapmap]
rs2421545	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs2421546	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2421548	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2421574	0.92[CEU][hapmap]
rs2421581	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs2421582	0.95[CEU][hapmap];0.92[CHB][hapmap];0.80[JPT][hapmap]
rs2421583	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap]
rs2421586	1.00[CEU][hapmap]
rs2421667	0.83[EUR][1000 genomes]
rs2421668	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs2421669	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs2461691	0.85[ASN][1000 genomes]
rs2948441	0.92[CHB][hapmap];0.87[JPT][hapmap]
rs2950770	0.84[ASN][1000 genomes]
rs3820700	0.92[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs4346412	0.84[EUR][1000 genomes]
rs4511748	0.84[CHB][hapmap]
rs4852305	0.81[JPT][hapmap]
rs4852306	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4852308	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4852927	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4852951	1.00[CEU][hapmap]
rs4852954	0.92[CEU][hapmap]
rs4852959	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap]
rs55677218	0.80[ASN][1000 genomes]
rs56054150	0.82[ASN][1000 genomes]
rs56770679	0.84[ASN][1000 genomes]
rs62153184	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6546826	0.92[CHB][hapmap]
rs6546827	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs6546829	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs6546832	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs6546842	0.84[ASN][1000 genomes]
rs6546846	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6546870	0.83[CHB][hapmap]
rs6706235	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs6706409	0.92[CHB][hapmap];0.87[JPT][hapmap]
rs6710659	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs6722867	0.88[EUR][1000 genomes]
rs6729468	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6730785	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6732440	0.96[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs6742619	0.92[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap]
rs6743576	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6744697	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6745560	0.96[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6746971	0.93[EUR][1000 genomes]
rs6747145	0.92[CHB][hapmap]
rs6748040	0.92[CHB][hapmap]
rs6749680	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6757996	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67898050	0.84[ASN][1000 genomes]
rs68154245	0.85[ASN][1000 genomes]
rs72811933	0.80[ASN][1000 genomes]
rs7562047	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7566315	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7570683	1.00[CEU][hapmap]
rs7574291	0.92[CHB][hapmap]
rs7576824	0.92[CHB][hapmap]
rs7585119	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7598660	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs7598901	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7606483	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7606947	0.92[CEU][hapmap];0.86[JPT][hapmap]
rs7609249	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs780388	0.88[ASN][1000 genomes]
rs780389	0.88[ASN][1000 genomes]
rs780390	0.92[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs780391	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs780393	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs780394	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs780395	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs780396	0.92[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs802113	0.88[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1083919	ALMS1	Cis_1M	lymphoblastoid	RTeQTL
rs1083919	TPRKB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73676200-73719400	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:73677000-73714200	Weak transcription	Pancreas	Pancrea
3	chr2:73680200-73714200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:73688000-73714200	Weak transcription	Ovary	ovary
5	chr2:73697600-73717800	Weak transcription	Fetal Heart	heart
6	chr2:73701800-73716800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:73702400-73716600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:73704400-73714000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:73704600-73716800	Weak transcription	HSMMtube	muscle
10	chr2:73704600-73721000	Weak transcription	HMEC	breast
11	chr2:73704800-73716800	Weak transcription	Brain Angular Gyrus	brain
12	chr2:73704800-73718600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:73705400-73714600	Weak transcription	Brain Anterior Caudate	brain
14	chr2:73705800-73722600	Weak transcription	Brain Substantia Nigra	brain
15	chr2:73706000-73714000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:73706600-73714400	Weak transcription	Liver	Liver
17	chr2:73706600-73715000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:73706600-73721000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:73706800-73714000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:73706800-73716800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:73706800-73717000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:73707000-73714000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:73707000-73714000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:73707000-73714200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:73707000-73714200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:73707000-73714200	Weak transcription	Adipose Nuclei	Adipose
27	chr2:73707000-73714400	Weak transcription	HSMM	muscle
28	chr2:73707000-73715400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:73707000-73716400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:73707000-73716800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:73707000-73716800	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:73707000-73716800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr2:73707000-73717000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:73707000-73718000	Weak transcription	Fetal Kidney	kidney
35	chr2:73707000-73718000	Weak transcription	A549	lung
36	chr2:73707000-73733400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:73707200-73714000	Weak transcription	Primary B cells from cord blood	blood
38	chr2:73709200-73725400	Weak transcription	Fetal Brain Male	brain
39	chr2:73711800-73740400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:73712000-73714000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:73712200-73714000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:73712200-73716600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr2:73712400-73714200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:73712400-73714400	Weak transcription	Placenta	Placenta
45	chr2:73712600-73714200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:73712600-73714200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:73712600-73714400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr2:73712600-73715200	Weak transcription	Colonic Mucosa	Colon
49	chr2:73712600-73716800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:73712600-73716800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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