Variant report

Variant	rs2140195
Chromosome Location	chr2:73702344-73702345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73612462..73614478-chr2:73701953..73704453,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116127	Chromatin interaction

Extended variants
information (count: 166 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs10169213	0.86[EUR][1000 genomes]
rs10169714	0.86[EUR][1000 genomes]
rs10170786	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170849	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173534	0.84[EUR][1000 genomes]
rs10178678	0.89[EUR][1000 genomes]
rs10179134	0.89[EUR][1000 genomes]
rs10181563	0.82[EUR][1000 genomes]
rs10183818	0.93[EUR][1000 genomes]
rs10184268	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185080	0.86[EUR][1000 genomes]
rs10186501	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187192	0.93[EUR][1000 genomes]
rs10187416	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189574	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190219	0.93[EUR][1000 genomes]
rs10193972	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195357	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195358	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197409	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197755	0.86[EUR][1000 genomes]
rs10198549	0.86[EUR][1000 genomes]
rs10199224	0.91[EUR][1000 genomes]
rs10207220	0.86[EUR][1000 genomes]
rs10207264	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209517	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469966	0.82[EUR][1000 genomes]
rs10496191	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10496193	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052162	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126404	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114380	0.86[EUR][1000 genomes]
rs11674602	0.93[EUR][1000 genomes]
rs11676385	0.94[EUR][1000 genomes]
rs11679809	0.87[EUR][1000 genomes]
rs11686019	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11689392	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11689588	0.88[EUR][1000 genomes]
rs11693586	0.93[EUR][1000 genomes]
rs11693588	0.93[EUR][1000 genomes]
rs11884776	0.91[EUR][1000 genomes]
rs11893881	0.80[EUR][1000 genomes]
rs11899740	0.89[EUR][1000 genomes]
rs11899902	0.88[EUR][1000 genomes]
rs11901272	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903916	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383871	0.89[EUR][1000 genomes]
rs13384952	0.93[EUR][1000 genomes]
rs13385564	0.91[EUR][1000 genomes]
rs13391258	1.00[ASN][1000 genomes]
rs13391552	0.84[EUR][1000 genomes]
rs13392691	0.92[EUR][1000 genomes]
rs13392872	0.92[EUR][1000 genomes]
rs13398956	0.93[EUR][1000 genomes]
rs13400985	0.93[EUR][1000 genomes]
rs13409366	0.80[EUR][1000 genomes]
rs13409668	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411311	0.93[EUR][1000 genomes]
rs13421462	0.93[EUR][1000 genomes]
rs13427832	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428235	0.88[EUR][1000 genomes]
rs13431267	0.84[EUR][1000 genomes]
rs13432605	0.84[EUR][1000 genomes]
rs1403284	0.94[EUR][1000 genomes]
rs1534471	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009149	0.86[EUR][1000 genomes]
rs17009159	0.86[EUR][1000 genomes]
rs1881245	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918863	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2056486	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421550	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421552	0.91[EUR][1000 genomes]
rs2421555	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421577	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28879089	0.84[EUR][1000 genomes]
rs2901438	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738848	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813227	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500972	0.87[ASN][1000 genomes]
rs56014217	0.90[EUR][1000 genomes]
rs56145559	0.84[EUR][1000 genomes]
rs56154726	0.93[EUR][1000 genomes]
rs56672945	0.89[EUR][1000 genomes]
rs58603761	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60844734	0.89[EUR][1000 genomes]
rs62149781	0.81[EUR][1000 genomes]
rs62151646	0.96[EUR][1000 genomes]
rs62151652	0.96[EUR][1000 genomes]
rs6546835	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546836	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546837	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546838	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546839	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546845	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546847	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546849	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546850	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546851	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546852	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546853	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546854	0.81[EUR][1000 genomes]
rs6546856	1.00[ASN][1000 genomes]
rs6546858	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546859	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546860	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546861	1.00[ASN][1000 genomes]
rs6704782	0.88[EUR][1000 genomes]
rs6705489	0.94[EUR][1000 genomes]
rs6705977	1.00[ASN][1000 genomes]
rs6707722	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708766	0.93[EUR][1000 genomes]
rs6710438	0.83[EUR][1000 genomes]
rs6711001	1.00[ASN][1000 genomes]
rs6711033	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6718843	1.00[ASN][1000 genomes]
rs6719753	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723247	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724782	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726694	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735946	0.86[EUR][1000 genomes]
rs6736866	0.94[EUR][1000 genomes]
rs6740223	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740766	0.86[EUR][1000 genomes]
rs6741067	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6745368	0.84[EUR][1000 genomes]
rs6745480	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753344	0.94[EUR][1000 genomes]
rs6755217	0.91[EUR][1000 genomes]
rs6755241	0.91[EUR][1000 genomes]
rs6756885	0.85[EUR][1000 genomes]
rs6756987	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73947808	0.93[EUR][1000 genomes]
rs7424690	0.85[EUR][1000 genomes]
rs7558944	0.84[EUR][1000 genomes]
rs7564890	0.93[EUR][1000 genomes]
rs7566364	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566385	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567585	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572722	0.93[EUR][1000 genomes]
rs7576245	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580750	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580825	0.90[EUR][1000 genomes]
rs7582606	0.84[EUR][1000 genomes]
rs7583255	0.86[EUR][1000 genomes]
rs7584575	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585004	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585124	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586463	0.86[EUR][1000 genomes]
rs7587577	0.81[EUR][1000 genomes]
rs7588169	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594511	0.94[EUR][1000 genomes]
rs7596773	0.80[EUR][1000 genomes]
rs7598396	0.94[EUR][1000 genomes]
rs7598419	0.86[EUR][1000 genomes]
rs7598946	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602980	0.93[EUR][1000 genomes]
rs7603647	0.84[EUR][1000 genomes]
rs7604682	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607014	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607892	0.84[EUR][1000 genomes]
rs9309473	0.93[EUR][1000 genomes]
rs9653557	0.86[EUR][1000 genomes]
rs9749859	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9750915	0.84[EUR][1000 genomes]
rs9753079	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9807961	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2140195	ALMS1P	cis	Nerve Tibial	GTEx
rs2140195	ALMS1	Cis_1M	lymphoblastoid	RTeQTL
rs2140195	ALMS1P	cis	Whole Blood	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73676200-73719400	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:73676800-73706400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:73677000-73714200	Weak transcription	Pancreas	Pancrea
4	chr2:73678000-73706800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:73680200-73706400	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:73680200-73714200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:73681600-73706800	Weak transcription	HSMM	muscle
8	chr2:73683000-73706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:73687000-73706200	Weak transcription	Primary T cells from cord blood	blood
10	chr2:73687000-73706400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:73688000-73714200	Weak transcription	Ovary	ovary
12	chr2:73688600-73706200	Weak transcription	Fetal Lung	lung
13	chr2:73695800-73706400	Weak transcription	Fetal Kidney	kidney
14	chr2:73697200-73706400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:73697600-73706200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:73697600-73717800	Weak transcription	Fetal Heart	heart
17	chr2:73700000-73713800	Weak transcription	Thymus	Thymus
18	chr2:73700200-73706200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:73700200-73706400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:73700800-73706400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:73701200-73706400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:73701600-73706000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:73701800-73716800	Weak transcription	Muscle Satellite Cultured Cells	--

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