Variant report

Variant	rs7588169
Chromosome Location	chr2:73732096-73732097
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 171 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:167)

rs_ID	r²[population]
rs10169213	0.86[EUR][1000 genomes]
rs10169714	0.86[EUR][1000 genomes]
rs10170786	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170849	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173534	0.85[EUR][1000 genomes]
rs10178678	0.88[EUR][1000 genomes]
rs10179134	0.86[EUR][1000 genomes]
rs10181563	0.81[EUR][1000 genomes]
rs10183818	0.93[EUR][1000 genomes]
rs10184268	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185080	0.85[EUR][1000 genomes]
rs10186501	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187192	0.93[EUR][1000 genomes]
rs10187416	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189574	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190219	0.90[EUR][1000 genomes]
rs10193972	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195357	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195358	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197409	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197755	0.85[EUR][1000 genomes]
rs10198549	0.86[EUR][1000 genomes]
rs10199224	0.90[EUR][1000 genomes]
rs10207220	0.86[EUR][1000 genomes]
rs10207264	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209517	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469966	0.82[EUR][1000 genomes]
rs10496191	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10496193	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052162	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126404	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114380	0.86[EUR][1000 genomes]
rs11674602	0.93[EUR][1000 genomes]
rs11676385	0.93[EUR][1000 genomes]
rs11679809	0.84[EUR][1000 genomes]
rs11686019	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11689392	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11689588	0.88[EUR][1000 genomes]
rs11693586	0.95[EUR][1000 genomes]
rs11693588	0.95[EUR][1000 genomes]
rs11884776	0.92[EUR][1000 genomes]
rs11893881	0.81[EUR][1000 genomes]
rs11899740	0.86[EUR][1000 genomes]
rs11899902	0.86[EUR][1000 genomes]
rs11901272	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903916	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383871	0.86[EUR][1000 genomes]
rs13384952	0.94[EUR][1000 genomes]
rs13385564	0.93[EUR][1000 genomes]
rs13391258	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13391552	0.84[EUR][1000 genomes]
rs13392691	0.91[EUR][1000 genomes]
rs13392872	0.91[EUR][1000 genomes]
rs13398956	0.94[EUR][1000 genomes]
rs13400985	0.94[EUR][1000 genomes]
rs13409366	0.81[EUR][1000 genomes]
rs13409668	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411311	0.95[EUR][1000 genomes]
rs13421462	0.94[EUR][1000 genomes]
rs13427832	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428235	0.86[EUR][1000 genomes]
rs13431267	0.83[EUR][1000 genomes]
rs13432605	0.85[EUR][1000 genomes]
rs1403284	0.93[EUR][1000 genomes]
rs1534471	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009149	0.86[EUR][1000 genomes]
rs17009159	0.86[EUR][1000 genomes]
rs1881244	0.80[AFR][1000 genomes]
rs1881245	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918863	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2056486	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140195	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421550	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421552	0.90[EUR][1000 genomes]
rs2421555	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421577	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28879089	0.84[EUR][1000 genomes]
rs2901438	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738848	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813227	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500972	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56014217	0.86[EUR][1000 genomes]
rs56145559	0.82[EUR][1000 genomes]
rs56154726	0.94[EUR][1000 genomes]
rs56672945	0.87[EUR][1000 genomes]
rs58603761	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60844734	0.87[EUR][1000 genomes]
rs62149781	0.83[EUR][1000 genomes]
rs62151646	0.92[EUR][1000 genomes]
rs62151652	0.92[EUR][1000 genomes]
rs6546835	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546836	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546837	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546838	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546839	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546845	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546847	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546849	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546850	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546851	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546852	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546853	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546854	0.82[EUR][1000 genomes]
rs6546856	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546858	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546859	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546860	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546861	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6704782	0.88[EUR][1000 genomes]
rs6705489	0.91[EUR][1000 genomes]
rs6705977	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6707722	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708766	0.93[EUR][1000 genomes]
rs6710438	0.84[EUR][1000 genomes]
rs6711001	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6711033	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6718843	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6719753	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723247	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724782	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726694	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735946	0.86[EUR][1000 genomes]
rs6736866	0.91[EUR][1000 genomes]
rs6740223	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740766	0.86[EUR][1000 genomes]
rs6741067	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6745368	0.85[EUR][1000 genomes]
rs6745480	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753344	0.91[EUR][1000 genomes]
rs6755217	0.88[EUR][1000 genomes]
rs6755241	0.88[EUR][1000 genomes]
rs6756885	0.84[EUR][1000 genomes]
rs6756987	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73947808	0.94[EUR][1000 genomes]
rs7424690	0.86[EUR][1000 genomes]
rs7558944	0.85[EUR][1000 genomes]
rs7564890	0.89[EUR][1000 genomes]
rs7566364	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566385	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567585	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572722	0.94[EUR][1000 genomes]
rs7576245	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580750	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580825	0.86[EUR][1000 genomes]
rs7582606	0.85[EUR][1000 genomes]
rs7583255	0.86[EUR][1000 genomes]
rs7584575	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585004	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585124	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586463	0.86[EUR][1000 genomes]
rs7587577	0.82[EUR][1000 genomes]
rs7594511	0.91[EUR][1000 genomes]
rs7596773	0.81[EUR][1000 genomes]
rs7598396	0.91[EUR][1000 genomes]
rs7598419	0.86[EUR][1000 genomes]
rs7598946	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602980	0.93[EUR][1000 genomes]
rs7603647	0.84[EUR][1000 genomes]
rs7604682	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607014	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607892	0.84[EUR][1000 genomes]
rs9309473	0.92[EUR][1000 genomes]
rs9653557	0.86[EUR][1000 genomes]
rs9749859	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9750915	0.85[EUR][1000 genomes]
rs9753079	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9807961	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7588169	ALMS1	Cis_1M	lymphoblastoid	RTeQTL
rs7588169	ALMS1P	cis	Whole Blood	GTEx
rs7588169	ALMS1P	cis	Thyroid	GTEx
rs7588169	ALMS1P	cis	Artery Tibial	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73707000-73733400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:73711800-73740400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:73713200-73757400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:73715600-73740200	Weak transcription	Esophagus	oesophagus
5	chr2:73715600-73751800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:73715800-73740200	Weak transcription	Gastric	stomach
7	chr2:73717400-73757800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:73718000-73740800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:73718000-73746800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:73718200-73740400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:73718400-73738400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:73718400-73740200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:73718600-73732400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:73718600-73740200	Weak transcription	Fetal Kidney	kidney
15	chr2:73718600-73740400	Weak transcription	Thymus	Thymus
16	chr2:73718800-73740200	Weak transcription	Aorta	Aorta
17	chr2:73718800-73740200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:73718800-73740400	Weak transcription	HSMMtube	muscle
19	chr2:73719000-73740200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:73719000-73740400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:73719200-73739800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:73719200-73740200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:73719400-73740400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:73719400-73747000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:73719600-73738200	Weak transcription	Primary T cells from cord blood	blood
26	chr2:73719800-73740200	Weak transcription	Primary B cells from cord blood	blood
27	chr2:73728200-73747000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:73731400-73732200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:73731600-73740200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:73731600-73740200	Weak transcription	HSMM	muscle
31	chr2:73731600-73759000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:73731800-73732200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:73731800-73739800	Weak transcription	Dnd41	blood
34	chr2:73731800-73740200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:73731800-73746800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:73731800-73752000	Weak transcription	Fetal Heart	heart
37	chr2:73731800-73807600	Weak transcription	Hela-S3	cervix
38	chr2:73732000-73740200	Weak transcription	Fetal Lung	lung

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