Variant report

Variant	rs7582606
Chromosome Location	chr2:73813945-73813946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:188)

rs_ID	r²[population]
rs10168931	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10169213	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10169714	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170786	0.95[EUR][1000 genomes]
rs10170849	0.86[EUR][1000 genomes]
rs10173534	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178409	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10178678	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179134	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181563	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183818	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185080	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186501	0.84[EUR][1000 genomes]
rs10187192	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187416	0.85[EUR][1000 genomes]
rs10189574	0.84[EUR][1000 genomes]
rs10190219	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193972	0.85[EUR][1000 genomes]
rs10197409	0.93[EUR][1000 genomes]
rs10197755	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198549	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199224	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206899	0.81[AMR][1000 genomes]
rs10207220	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207264	0.85[EUR][1000 genomes]
rs10209517	0.91[EUR][1000 genomes]
rs10469966	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496191	0.82[EUR][1000 genomes]
rs10496192	1.00[ASN][1000 genomes]
rs10496193	0.91[EUR][1000 genomes]
rs1052162	0.91[EUR][1000 genomes]
rs11126404	0.87[EUR][1000 genomes]
rs1114380	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674602	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11675958	1.00[ASN][1000 genomes]
rs11676385	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679594	1.00[ASN][1000 genomes]
rs11679809	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11680965	1.00[ASN][1000 genomes]
rs11686019	0.88[EUR][1000 genomes]
rs11686541	1.00[ASN][1000 genomes]
rs11689164	1.00[ASN][1000 genomes]
rs11689588	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693586	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693588	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884776	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893881	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899740	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899902	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903916	0.95[EUR][1000 genomes]
rs13383871	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384756	1.00[ASN][1000 genomes]
rs13384952	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385564	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391258	0.83[EUR][1000 genomes]
rs13391552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392691	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392872	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13398956	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13400985	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409366	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409668	0.86[EUR][1000 genomes]
rs13410232	1.00[ASN][1000 genomes]
rs13411311	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13421462	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427832	0.91[EUR][1000 genomes]
rs13428235	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431267	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431529	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13432605	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13538	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1403284	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1534471	0.82[EUR][1000 genomes]
rs1589576	1.00[ASN][1000 genomes]
rs17009149	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009159	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17349321	1.00[ASN][1000 genomes]
rs1881245	0.82[EUR][1000 genomes]
rs1918863	0.81[EUR][1000 genomes]
rs2056486	0.85[EUR][1000 genomes]
rs2140195	0.84[EUR][1000 genomes]
rs2421550	0.82[EUR][1000 genomes]
rs2421552	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421555	0.95[EUR][1000 genomes]
rs2421577	0.91[EUR][1000 genomes]
rs2567598	1.00[ASN][1000 genomes]
rs2567601	1.00[ASN][1000 genomes]
rs2567602	1.00[ASN][1000 genomes]
rs2567603	1.00[ASN][1000 genomes]
rs28879089	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901438	0.82[EUR][1000 genomes]
rs3738848	0.84[EUR][1000 genomes]
rs3813227	0.82[EUR][1000 genomes]
rs4547554	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56014217	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56154726	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56672945	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58603761	0.85[EUR][1000 genomes]
rs60844734	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62149774	1.00[ASN][1000 genomes]
rs62149777	1.00[ASN][1000 genomes]
rs62149781	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62149782	1.00[ASN][1000 genomes]
rs62149804	1.00[ASN][1000 genomes]
rs62151564	1.00[ASN][1000 genomes]
rs62151646	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62151652	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62153182	1.00[ASN][1000 genomes]
rs62153183	1.00[ASN][1000 genomes]
rs6546835	0.82[EUR][1000 genomes]
rs6546836	0.82[EUR][1000 genomes]
rs6546837	0.82[EUR][1000 genomes]
rs6546838	0.82[EUR][1000 genomes]
rs6546839	0.82[EUR][1000 genomes]
rs6546845	0.91[EUR][1000 genomes]
rs6546847	0.93[EUR][1000 genomes]
rs6546849	0.91[EUR][1000 genomes]
rs6546850	0.91[EUR][1000 genomes]
rs6546851	0.91[EUR][1000 genomes]
rs6546852	0.91[EUR][1000 genomes]
rs6546853	0.91[EUR][1000 genomes]
rs6546854	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546856	0.87[EUR][1000 genomes]
rs6546857	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546858	0.91[EUR][1000 genomes]
rs6546859	0.91[EUR][1000 genomes]
rs6546860	0.91[EUR][1000 genomes]
rs6546861	0.83[EUR][1000 genomes]
rs6704782	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705489	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705977	0.83[EUR][1000 genomes]
rs6707722	0.82[EUR][1000 genomes]
rs6708766	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710438	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711001	0.84[EUR][1000 genomes]
rs6711033	0.86[EUR][1000 genomes]
rs6718843	0.83[EUR][1000 genomes]
rs6719753	0.84[EUR][1000 genomes]
rs6723247	0.91[EUR][1000 genomes]
rs6724782	0.82[EUR][1000 genomes]
rs6726694	0.91[EUR][1000 genomes]
rs6735946	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736866	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740223	0.82[EUR][1000 genomes]
rs6740766	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744398	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6745368	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745480	0.91[EUR][1000 genomes]
rs6753344	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755217	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755241	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756885	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756987	0.84[EUR][1000 genomes]
rs6759452	1.00[ASN][1000 genomes]
rs73947808	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7424690	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558944	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564890	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566364	0.91[EUR][1000 genomes]
rs7566385	0.86[EUR][1000 genomes]
rs7567585	0.85[EUR][1000 genomes]
rs7572722	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576245	0.91[EUR][1000 genomes]
rs7580750	0.93[EUR][1000 genomes]
rs7580825	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582051	1.00[ASN][1000 genomes]
rs7583255	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584575	0.83[EUR][1000 genomes]
rs7585004	0.82[EUR][1000 genomes]
rs7585124	0.82[EUR][1000 genomes]
rs7586463	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587577	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588169	0.85[EUR][1000 genomes]
rs7594511	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596773	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598396	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598419	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7598946	0.82[EUR][1000 genomes]
rs7602980	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603647	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604682	0.93[EUR][1000 genomes]
rs7607014	0.86[EUR][1000 genomes]
rs7607892	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309473	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9653557	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9749859	0.95[EUR][1000 genomes]
rs9750915	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9807961	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7582606	ALMS1P	cis	Thyroid	GTEx
rs7582606	ALMS1P	cis	Nerve Tibial	GTEx
rs7582606	ALMS1	Cis_1M	lymphoblastoid	RTeQTL
rs7582606	ALMS1P	cis	Skin Sun Exposed Lower leg	GTEx
rs7582606	ALMS1P	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73759600-73828000	Weak transcription	Pancreas	Pancrea
2	chr2:73760600-73828000	Weak transcription	Right Ventricle	heart
3	chr2:73765800-73815400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:73765800-73837800	Weak transcription	Fetal Brain Male	brain
5	chr2:73776000-73821600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:73785200-73815400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:73785400-73838200	Weak transcription	Psoas Muscle	Psoas
8	chr2:73786200-73815400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:73788200-73815200	Weak transcription	Brain Angular Gyrus	brain
10	chr2:73792200-73828600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:73792600-73820800	Weak transcription	HSMMtube	muscle
12	chr2:73797400-73828400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:73800000-73815400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:73800000-73815400	Weak transcription	Ovary	ovary
15	chr2:73800400-73815400	Weak transcription	Lung	lung
16	chr2:73800400-73827600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:73800600-73821200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:73800600-73821600	Weak transcription	Primary B cells from cord blood	blood
19	chr2:73800600-73822400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:73800600-73828000	Weak transcription	Gastric	stomach
21	chr2:73800600-73828400	Weak transcription	Aorta	Aorta
22	chr2:73800600-73828600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:73800800-73827800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:73800800-73827800	Weak transcription	Left Ventricle	heart
25	chr2:73800800-73828000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:73800800-73828200	Weak transcription	Brain Substantia Nigra	brain
27	chr2:73800800-73828800	Weak transcription	HSMM	muscle
28	chr2:73801000-73844000	Weak transcription	Fetal Kidney	kidney
29	chr2:73807000-73828200	Weak transcription	Fetal Thymus	thymus
30	chr2:73807600-73828000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:73807600-73828000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:73807600-73829200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:73807800-73827400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:73808200-73815400	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:73808200-73821600	Weak transcription	Dnd41	blood
36	chr2:73808200-73827800	Weak transcription	Fetal Stomach	stomach
37	chr2:73808400-73815400	Weak transcription	Brain Germinal Matrix	brain
38	chr2:73808400-73828000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:73808600-73821800	Weak transcription	Fetal Lung	lung
40	chr2:73808600-73828000	Weak transcription	Thymus	Thymus
41	chr2:73808800-73815200	Weak transcription	Primary T cells from cord blood	blood
42	chr2:73808800-73821200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:73808800-73821600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:73808800-73828000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:73808800-73828000	Weak transcription	Adipose Nuclei	Adipose
46	chr2:73812800-73828600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:73813000-73814200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:73813000-73815400	Weak transcription	HepG2	liver
49	chr2:73813200-73822200	Weak transcription	Fetal Intestine Small	intestine
50	chr2:73813800-73820800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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