Variant report

Variant	rs11899740
Chromosome Location	chr2:73631212-73631213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10169213	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10169714	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170849	0.84[EUR][1000 genomes]
rs10173534	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178678	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179134	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181563	1.00[ASN][1000 genomes]
rs10183818	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184268	0.95[EUR][1000 genomes]
rs10185080	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186501	0.89[EUR][1000 genomes]
rs10187192	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187416	0.87[EUR][1000 genomes]
rs10189574	0.89[EUR][1000 genomes]
rs10190219	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193972	0.87[EUR][1000 genomes]
rs10195357	0.83[EUR][1000 genomes]
rs10195358	0.83[EUR][1000 genomes]
rs10197755	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198549	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199224	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207220	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207264	0.87[EUR][1000 genomes]
rs10469966	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496191	0.90[EUR][1000 genomes]
rs10496192	1.00[ASN][1000 genomes]
rs10496193	0.82[EUR][1000 genomes]
rs1114380	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674602	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676385	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679594	1.00[ASN][1000 genomes]
rs11679809	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11680965	1.00[ASN][1000 genomes]
rs11686541	1.00[ASN][1000 genomes]
rs11689392	0.94[EUR][1000 genomes]
rs11689588	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693531	0.81[AMR][1000 genomes]
rs11693586	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693588	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884776	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893881	1.00[ASN][1000 genomes]
rs11899902	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901272	0.82[EUR][1000 genomes]
rs13383871	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384952	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385564	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391552	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392691	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392872	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13398956	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13400985	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409366	1.00[ASN][1000 genomes]
rs13409668	0.86[EUR][1000 genomes]
rs13411311	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13421462	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428235	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431267	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432605	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403284	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1534471	0.90[EUR][1000 genomes]
rs1589576	1.00[ASN][1000 genomes]
rs17009149	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009159	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17349321	1.00[ASN][1000 genomes]
rs1881245	0.90[EUR][1000 genomes]
rs1918863	0.92[EUR][1000 genomes]
rs2056486	0.87[EUR][1000 genomes]
rs2140195	0.89[EUR][1000 genomes]
rs2421550	0.91[EUR][1000 genomes]
rs2421552	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28879089	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901438	0.90[EUR][1000 genomes]
rs3738848	0.83[EUR][1000 genomes]
rs3813227	0.90[EUR][1000 genomes]
rs56014217	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56145559	0.95[EUR][1000 genomes]
rs56154726	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56672945	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58603761	0.87[EUR][1000 genomes]
rs60844734	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62149774	1.00[ASN][1000 genomes]
rs62149777	1.00[ASN][1000 genomes]
rs62149781	1.00[ASN][1000 genomes]
rs62149782	1.00[ASN][1000 genomes]
rs62149804	1.00[ASN][1000 genomes]
rs62151564	1.00[ASN][1000 genomes]
rs62151646	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62151652	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62153182	1.00[ASN][1000 genomes]
rs62153183	1.00[ASN][1000 genomes]
rs6546835	0.90[EUR][1000 genomes]
rs6546836	0.90[EUR][1000 genomes]
rs6546837	0.90[EUR][1000 genomes]
rs6546838	0.90[EUR][1000 genomes]
rs6546839	0.90[EUR][1000 genomes]
rs6546845	0.83[EUR][1000 genomes]
rs6546854	1.00[ASN][1000 genomes]
rs6546857	1.00[ASN][1000 genomes]
rs6704782	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705489	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706235	0.81[AMR][1000 genomes]
rs6707722	0.90[EUR][1000 genomes]
rs6708766	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710438	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711033	0.84[EUR][1000 genomes]
rs6719753	0.84[EUR][1000 genomes]
rs6724782	0.90[EUR][1000 genomes]
rs6735946	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736866	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740223	0.90[EUR][1000 genomes]
rs6740766	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741067	0.89[EUR][1000 genomes]
rs6745368	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753344	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755217	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755241	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756885	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756987	0.89[EUR][1000 genomes]
rs73947808	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7424690	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558944	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564890	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566385	0.85[EUR][1000 genomes]
rs7567585	0.84[EUR][1000 genomes]
rs7572722	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580825	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582606	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583255	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584575	0.91[EUR][1000 genomes]
rs7585004	0.90[EUR][1000 genomes]
rs7585124	0.90[EUR][1000 genomes]
rs7586463	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587577	1.00[ASN][1000 genomes]
rs7588169	0.86[EUR][1000 genomes]
rs7594511	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596773	1.00[ASN][1000 genomes]
rs7598396	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598419	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7598946	0.90[EUR][1000 genomes]
rs7602980	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603647	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607014	0.86[EUR][1000 genomes]
rs7607892	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309473	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9653557	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9750915	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9807961	0.88[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11899740	ALMS1P	cis	Skin Sun Exposed Lower leg	GTEx
rs11899740	ALMS1P	cis	Thyroid	GTEx
rs11899740	ALMS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73614600-73641600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:73615000-73645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:73615000-73646800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:73615200-73646400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:73620000-73641200	Weak transcription	Osteobl	bone
6	chr2:73622000-73648000	Weak transcription	Fetal Kidney	kidney
7	chr2:73622800-73662800	Weak transcription	Right Ventricle	heart
8	chr2:73624000-73631400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:73625200-73637000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:73626600-73653200	Weak transcription	Left Ventricle	heart
11	chr2:73626800-73636800	Weak transcription	Fetal Lung	lung
12	chr2:73626800-73645400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:73626800-73651600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:73626800-73651800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:73626800-73662600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:73626800-73662800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:73626800-73662800	Weak transcription	Aorta	Aorta
18	chr2:73626800-73663400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:73626800-73664000	Weak transcription	Thymus	Thymus
20	chr2:73627000-73641000	Weak transcription	HSMM	muscle
21	chr2:73627400-73652000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:73627400-73664400	Weak transcription	Pancreas	Pancrea
23	chr2:73627800-73641000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:73628800-73663000	Weak transcription	Hela-S3	cervix
25	chr2:73629000-73632000	ZNF genes & repeats	Dnd41	blood
26	chr2:73629600-73637400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:73630000-73632000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:73630600-73632600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:73630600-73651600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:73631000-73631400	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr2:73631000-73631400	ZNF genes & repeats	Fetal Stomach	stomach
32	chr2:73631000-73631400	ZNF genes & repeats	Ovary	ovary
33	chr2:73631000-73631800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:73631000-73634200	Weak transcription	Esophagus	oesophagus
35	chr2:73631200-73645200	Weak transcription	NHDF-Ad	bronchial

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