Variant report

Variant	rs62151604
Chromosome Location	chr2:73657446-73657447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73657169..73659411-chr2:73676920..73679327,2	MCF-7	breast:
2	chr2:73647910..73650383-chr2:73656161..73658421,2	K562	blood:
3	chr2:73611988..73614685-chr2:73655952..73658510,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116127	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10496192	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11679594	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11680965	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11686541	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1589576	0.97[EUR][1000 genomes]
rs17349321	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56131703	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62149774	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62149777	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62149782	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62149804	0.81[EUR][1000 genomes]
rs62151564	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62153182	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62153183	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7582051	0.81[AMR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs62151604	ALMS1P	cis	Skin Sun Exposed Lower leg	GTEx
rs62151604	ALMS1P	cis	Thyroid	GTEx
rs62151604	ALMS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73622800-73662800	Weak transcription	Right Ventricle	heart
2	chr2:73626800-73662600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:73626800-73662800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:73626800-73662800	Weak transcription	Aorta	Aorta
5	chr2:73626800-73663400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:73626800-73664000	Weak transcription	Thymus	Thymus
7	chr2:73627400-73664400	Weak transcription	Pancreas	Pancrea
8	chr2:73628800-73663000	Weak transcription	Hela-S3	cervix
9	chr2:73631400-73659800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:73632400-73658800	Weak transcription	Liver	Liver
11	chr2:73633200-73662800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:73634000-73659200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:73634000-73661400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:73634000-73663200	Weak transcription	Psoas Muscle	Psoas
15	chr2:73634400-73662000	Weak transcription	Lung	lung
16	chr2:73634400-73662800	Weak transcription	Esophagus	oesophagus
17	chr2:73634600-73661800	Weak transcription	Brain Germinal Matrix	brain
18	chr2:73634800-73659600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:73635600-73659600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:73637200-73659600	Weak transcription	GM12878-XiMat	blood
21	chr2:73637600-73662800	Weak transcription	Fetal Stomach	stomach
22	chr2:73637800-73662400	Weak transcription	A549	lung
23	chr2:73637800-73663600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:73637800-73676200	Weak transcription	Fetal Brain Male	brain
25	chr2:73638600-73661400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:73639200-73675400	Weak transcription	HMEC	breast
27	chr2:73642200-73666000	Weak transcription	NHLF	lung
28	chr2:73643400-73663000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr2:73644600-73662800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:73645400-73662600	Weak transcription	Brain Substantia Nigra	brain
31	chr2:73645400-73675200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:73645600-73661800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:73645600-73663000	Weak transcription	NHDF-Ad	bronchial
34	chr2:73645600-73675200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:73645600-73676600	Weak transcription	NH-A	brain
36	chr2:73645600-73685600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:73645800-73662600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:73645800-73662800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:73646000-73659600	Weak transcription	Brain Angular Gyrus	brain
40	chr2:73646000-73664000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:73646200-73661400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:73646200-73661800	Strong transcription	Dnd41	blood
43	chr2:73646200-73662800	Weak transcription	Brain Anterior Caudate	brain
44	chr2:73646400-73659600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:73646400-73659600	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:73646400-73675200	Weak transcription	Osteobl	bone
47	chr2:73646600-73662600	Weak transcription	Fetal Brain Female	brain
48	chr2:73646600-73662800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:73646600-73663400	Weak transcription	Fetal Heart	heart
50	chr2:73646600-73664200	Weak transcription	Small Intestine	intestine

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