Variant report

Variant	rs805373
Chromosome Location	chr2:54086595-54086596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1363062	0.81[CHB][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap]
rs1363063	0.82[JPT][hapmap]
rs1421617	0.81[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap]
rs17045439	0.91[JPT][hapmap]
rs2111623	0.84[GIH][hapmap];0.83[MEX][hapmap]
rs2111868	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2160931	0.87[MEX][hapmap]
rs2302878	0.91[JPT][hapmap]
rs2357693	0.81[GIH][hapmap];0.88[MEX][hapmap]
rs2542585	0.84[GIH][hapmap];0.83[MEX][hapmap]
rs2542588	0.84[GIH][hapmap]
rs3821081	0.87[MEX][hapmap]
rs718872	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs7558126	0.81[CHB][hapmap]
rs7569214	0.81[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap]
rs7569370	0.81[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap]
rs7601692	0.83[MEX][hapmap]
rs805308	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs805309	0.90[JPT][hapmap]
rs805317	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805318	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805320	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs805322	0.87[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs805330	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs805341	0.81[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap]
rs805358	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805359	0.81[ASN][1000 genomes]
rs805360	0.82[CEU][hapmap];0.81[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap]
rs805361	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805367	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs805374	0.87[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs805375	0.81[ASW][hapmap];0.81[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs805379	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs805380	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs805391	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs805392	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs805393	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs805402	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs805405	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs805410	0.87[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs805412	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs805421	0.87[ASN][1000 genomes]
rs805422	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805423	0.81[ASW][hapmap];0.87[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.90[ASN][1000 genomes]
rs805424	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs805430	0.88[AMR][1000 genomes]
rs805438	0.86[GIH][hapmap];0.92[MEX][hapmap]
rs805439	0.86[GIH][hapmap];0.92[MEX][hapmap]
rs805450	0.80[ASW][hapmap];0.81[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap]
rs809280	0.85[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs805373	PSME4	cis	cerebellum	SCAN
rs805373	ACYP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54074800-54096600	Weak transcription	Hela-S3	cervix
2	chr2:54078600-54086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:54078600-54092200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:54078800-54092400	Weak transcription	K562	blood
5	chr2:54079000-54091800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:54079200-54086800	Weak transcription	Colonic Mucosa	Colon
7	chr2:54079600-54090600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:54080200-54086800	Weak transcription	Right Atrium	heart
9	chr2:54081200-54091800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:54081600-54086800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:54081600-54087000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:54081600-54090600	Weak transcription	HUVEC	blood vessel
13	chr2:54081600-54091200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:54081600-54091600	Weak transcription	HSMMtube	muscle
15	chr2:54081800-54086800	Weak transcription	Gastric	stomach
16	chr2:54081800-54086800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:54081800-54086800	Weak transcription	Right Ventricle	heart
18	chr2:54081800-54087000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:54081800-54087400	Weak transcription	A549	lung
20	chr2:54081800-54087600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:54081800-54087800	Weak transcription	HSMM	muscle
22	chr2:54081800-54090000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:54081800-54090200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:54081800-54092200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:54081800-54094400	Weak transcription	Small Intestine	intestine
26	chr2:54082000-54086800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:54082000-54086800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:54082000-54086800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:54082000-54086800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:54082000-54086800	Weak transcription	Aorta	Aorta
31	chr2:54082000-54086800	Weak transcription	Fetal Kidney	kidney
32	chr2:54082000-54086800	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:54082000-54086800	Weak transcription	Lung	lung
34	chr2:54082000-54086800	Weak transcription	Psoas Muscle	Psoas
35	chr2:54082000-54086800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:54082000-54086800	Weak transcription	NHLF	lung
37	chr2:54082000-54088600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:54082000-54088800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:54082000-54089000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:54082000-54090400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:54082000-54091000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:54082000-54091200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:54082000-54091200	Weak transcription	Placenta	Placenta
44	chr2:54082000-54092000	Weak transcription	GM12878-XiMat	blood
45	chr2:54082200-54086800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:54082200-54086800	Weak transcription	Fetal Lung	lung
47	chr2:54082200-54086800	Weak transcription	Left Ventricle	heart
48	chr2:54082200-54088800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:54082200-54090400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:54082200-54090800	Weak transcription	Primary T cells fromperipheralblood	blood

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