Variant report

Variant	rs6756987
Chromosome Location	chr2:73687077-73687078
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73686152..73689083-chr2:73698075..73700708,3	K562	blood:

Extended variants
information (count: 170 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:170)

rs_ID	r²[population]
rs10165862	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10169213	0.86[EUR][1000 genomes]
rs10169714	0.85[EUR][1000 genomes]
rs10170786	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170849	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[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	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185080	0.85[EUR][1000 genomes]
rs10186501	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187192	0.93[EUR][1000 genomes]
rs10187416	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189574	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190219	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10193972	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195357	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195358	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197409	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197755	0.85[EUR][1000 genomes]
rs10198549	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs10199224	0.90[EUR][1000 genomes]
rs10207220	0.86[EUR][1000 genomes]
rs10207264	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209517	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469966	0.82[EUR][1000 genomes]
rs10496191	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10496192	0.88[CEU][hapmap]
rs10496193	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052162	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126404	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114380	0.86[EUR][1000 genomes]
rs11674602	0.92[EUR][1000 genomes]
rs11676385	0.93[EUR][1000 genomes]
rs11679809	0.86[EUR][1000 genomes]
rs11686019	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11689392	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11689588	0.88[EUR][1000 genomes]
rs11693586	0.92[EUR][1000 genomes]
rs11693588	0.92[EUR][1000 genomes]
rs11884776	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs11899740	0.89[EUR][1000 genomes]
rs11899902	0.89[EUR][1000 genomes]
rs11901272	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903916	0.80[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	0.90[EUR][1000 genomes]
rs13391258	1.00[ASN][1000 genomes]
rs13391552	0.83[EUR][1000 genomes]
rs13392691	0.91[EUR][1000 genomes]
rs13392872	0.91[EUR][1000 genomes]
rs13398956	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs13400985	0.93[EUR][1000 genomes]
rs13409668	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410232	0.94[CEU][hapmap]
rs13411311	0.92[EUR][1000 genomes]
rs13421462	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs13427832	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428235	0.89[EUR][1000 genomes]
rs13431267	0.83[EUR][1000 genomes]
rs13432605	0.84[EUR][1000 genomes]
rs13538	0.94[CEU][hapmap]
rs1403284	0.93[EUR][1000 genomes]
rs1534471	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009149	0.86[EUR][1000 genomes]
rs17009159	0.86[EUR][1000 genomes]
rs1881245	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918863	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2056486	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140195	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421550	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421552	0.90[EUR][1000 genomes]
rs2421555	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421577	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28879089	0.83[EUR][1000 genomes]
rs2901438	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738848	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813227	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500972	0.87[ASN][1000 genomes]
rs56014217	0.89[EUR][1000 genomes]
rs56145559	0.85[EUR][1000 genomes]
rs56154726	0.93[EUR][1000 genomes]
rs56672945	0.90[EUR][1000 genomes]
rs58603761	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60844734	0.90[EUR][1000 genomes]
rs62149781	0.80[EUR][1000 genomes]
rs62151646	0.95[EUR][1000 genomes]
rs62151652	0.95[EUR][1000 genomes]
rs6546827	0.88[CEU][hapmap];0.80[YRI][hapmap]
rs6546835	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546836	0.88[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546837	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546838	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546839	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546845	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546847	0.85[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	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546851	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546852	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546853	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546854	0.80[EUR][1000 genomes]
rs6546856	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546857	0.89[CEU][hapmap]
rs6546858	0.94[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546859	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546860	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546861	1.00[ASN][1000 genomes]
rs6704782	0.87[EUR][1000 genomes]
rs6705489	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6705977	1.00[ASN][1000 genomes]
rs6707722	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708766	0.92[EUR][1000 genomes]
rs6710438	0.82[EUR][1000 genomes]
rs6711001	1.00[ASN][1000 genomes]
rs6711033	0.94[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6718843	1.00[ASN][1000 genomes]
rs6719753	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723247	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724782	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726694	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735946	0.86[EUR][1000 genomes]
rs6736866	0.93[EUR][1000 genomes]
rs6740223	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740766	0.86[EUR][1000 genomes]
rs6741067	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6745368	0.84[EUR][1000 genomes]
rs6745480	0.94[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753344	0.93[EUR][1000 genomes]
rs6755217	0.91[EUR][1000 genomes]
rs6755241	0.91[EUR][1000 genomes]
rs6756885	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs6759452	0.82[CEU][hapmap]
rs73947808	0.93[EUR][1000 genomes]
rs7424690	0.84[EUR][1000 genomes]
rs7558944	0.84[EUR][1000 genomes]
rs7564890	0.92[EUR][1000 genomes]
rs7566364	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566385	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567585	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572722	0.93[EUR][1000 genomes]
rs7576245	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580750	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580825	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7582606	0.84[EUR][1000 genomes]
rs7583255	0.86[EUR][1000 genomes]
rs7584575	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585004	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585124	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586463	0.86[EUR][1000 genomes]
rs7587577	0.80[EUR][1000 genomes]
rs7588169	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594511	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7598396	0.93[EUR][1000 genomes]
rs7598419	0.86[EUR][1000 genomes]
rs7598946	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602980	0.93[EUR][1000 genomes]
rs7603647	0.83[EUR][1000 genomes]
rs7604682	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607014	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607892	0.83[EUR][1000 genomes]
rs9309473	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs9653557	0.86[EUR][1000 genomes]
rs9749859	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9750915	0.84[EUR][1000 genomes]
rs9753079	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9807961	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6756987	ALMS1P	cis	Whole Blood	GTEx
rs6756987	ALMS1P	cis	Artery Tibial	GTEx
rs6756987	ALMS1	Cis_1M	lymphoblastoid	RTeQTL
rs6756987	ALMS1	cis	normal skin	skin_eQTL
rs6756987	ALMS1P	cis	Thyroid	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73652200-73688400	Weak transcription	Colonic Mucosa	Colon
2	chr2:73663800-73689400	Weak transcription	NHDF-Ad	bronchial
3	chr2:73673000-73687200	Weak transcription	NHEK	skin
4	chr2:73675800-73688800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:73676200-73719400	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:73676600-73687200	Weak transcription	Esophagus	oesophagus
7	chr2:73676800-73687600	Weak transcription	Brain Substantia Nigra	brain
8	chr2:73676800-73688000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:73676800-73706400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:73677000-73688000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:73677000-73688400	Weak transcription	Psoas Muscle	Psoas
12	chr2:73677000-73698000	Weak transcription	Hela-S3	cervix
13	chr2:73677000-73714200	Weak transcription	Pancreas	Pancrea
14	chr2:73677200-73687200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:73677200-73689000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:73677200-73689200	Weak transcription	Osteobl	bone
17	chr2:73677400-73687600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:73677800-73688200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:73678000-73688400	Weak transcription	Spleen	Spleen
20	chr2:73678000-73706800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:73678200-73687200	Weak transcription	Right Ventricle	heart
22	chr2:73678600-73687600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:73678600-73688400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:73678800-73687400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:73678800-73688400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:73679200-73697000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:73679600-73687400	Weak transcription	Lung	lung
28	chr2:73679600-73688000	Weak transcription	HSMMtube	muscle
29	chr2:73679800-73692600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:73680000-73689600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:73680200-73706400	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:73680200-73714200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:73680400-73688600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:73680400-73689200	Weak transcription	NH-A	brain
35	chr2:73680600-73687600	Weak transcription	Fetal Stomach	stomach
36	chr2:73680800-73687400	Weak transcription	Primary B cells from cord blood	blood
37	chr2:73681000-73688600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:73681200-73687400	Weak transcription	HepG2	liver
39	chr2:73681600-73706800	Weak transcription	HSMM	muscle
40	chr2:73682400-73688000	Strong transcription	Ovary	ovary
41	chr2:73682600-73688400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:73682800-73689000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:73683000-73687600	Weak transcription	GM12878-XiMat	blood
44	chr2:73683000-73706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:73683400-73688600	Weak transcription	Adipose Nuclei	Adipose
46	chr2:73684000-73687400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:73684200-73688000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:73684200-73688000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr2:73684600-73688000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr2:73684600-73688000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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