Variant report

Variant	rs2909459
Chromosome Location	chr2:54194431-54194432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr2:54194414-54194751	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54165576..54167252-chr2:54193257..54196468,3	K562	blood:
2	chr2:54186673..54188652-chr2:54193510..54195241,2	MCF-7	breast:
3	chr2:54185625..54188123-chr2:54194333..54197670,3	MCF-7	breast:
4	chr2:54184275..54188127-chr2:54193177..54197889,6	K562	blood:
5	chr2:54176939..54180611-chr2:54194148..54196574,3	K562	blood:

No data

Variant related genes	Relation type
ACYP2	TF binding region

Extended variants
information (count: 121 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10167891	0.87[ASN][1000 genomes]
rs10168293	0.97[ASN][1000 genomes]
rs10183655	0.95[CHB][hapmap];0.92[ASN][1000 genomes]
rs11674724	0.87[ASN][1000 genomes]
rs11676462	0.82[AMR][1000 genomes]
rs11683741	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11689025	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11694711	0.96[ASN][1000 genomes]
rs11890838	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs11893270	0.80[ASN][1000 genomes]
rs11896815	0.83[AMR][1000 genomes]
rs11898855	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13394278	0.87[ASN][1000 genomes]
rs1477258	0.84[ASN][1000 genomes]
rs17039547	0.82[JPT][hapmap];0.92[YRI][hapmap]
rs17045452	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17045474	0.85[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs17045488	0.85[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs2112122	0.81[ASN][1000 genomes]
rs2253760	0.82[CHB][hapmap]
rs2287643	0.82[CHB][hapmap];0.83[JPT][hapmap];0.92[YRI][hapmap]
rs2302879	0.90[AMR][1000 genomes]
rs2357896	0.82[AMR][1000 genomes]
rs2542571	0.82[CHB][hapmap]
rs2542575	0.82[CHB][hapmap]
rs2692516	0.87[CHB][hapmap]
rs2692534	0.87[CHB][hapmap]
rs28653587	0.87[ASN][1000 genomes]
rs28851028	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2949815	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34498089	1.00[YRI][hapmap]
rs3731967	0.95[CHB][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs4671742	0.94[ASN][1000 genomes]
rs4671746	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4671747	0.83[ASN][1000 genomes]
rs55649409	0.83[AMR][1000 genomes]
rs55692047	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56302494	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62139336	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6545377	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6545380	0.81[ASN][1000 genomes]
rs6545381	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66773232	0.93[ASN][1000 genomes]
rs6714450	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6715488	0.86[ASN][1000 genomes]
rs6721970	0.92[YRI][hapmap]
rs6746965	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs6748976	0.88[ASN][1000 genomes]
rs6748997	0.86[ASN][1000 genomes]
rs698855	0.81[CEU][hapmap];0.91[CHB][hapmap];0.87[AMR][1000 genomes]
rs698857	0.91[AMR][1000 genomes]
rs72799298	0.88[ASN][1000 genomes]
rs72904908	0.87[ASN][1000 genomes]
rs7559384	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7559947	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7564912	0.87[ASN][1000 genomes]
rs7576901	0.84[AMR][1000 genomes]
rs7591431	0.87[ASN][1000 genomes]
rs805310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs805312	0.90[AMR][1000 genomes]
rs805313	0.93[AMR][1000 genomes]
rs805314	0.87[AMR][1000 genomes]
rs805315	0.87[AMR][1000 genomes]
rs805316	0.91[YRI][hapmap]
rs805319	0.90[AMR][1000 genomes]
rs805321	0.81[CEU][hapmap];0.91[CHB][hapmap];0.90[AMR][1000 genomes]
rs805323	0.90[AMR][1000 genomes]
rs805328	0.90[CHB][hapmap];0.90[AMR][1000 genomes]
rs805329	0.89[AMR][1000 genomes]
rs805337	0.83[AMR][1000 genomes]
rs805338	0.81[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs805340	0.85[AMR][1000 genomes]
rs805344	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs805346	0.90[AMR][1000 genomes]
rs805347	0.90[AMR][1000 genomes]
rs805348	0.89[AMR][1000 genomes]
rs805349	0.86[AMR][1000 genomes]
rs805351	0.81[CEU][hapmap];0.91[CHB][hapmap];0.94[AMR][1000 genomes]
rs805352	0.81[CEU][hapmap];0.91[CHB][hapmap];0.94[AMR][1000 genomes]
rs805354	0.94[AMR][1000 genomes]
rs805355	0.94[AMR][1000 genomes]
rs805356	0.94[AMR][1000 genomes]
rs805357	0.94[AMR][1000 genomes]
rs805362	0.94[AMR][1000 genomes]
rs805363	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs805365	0.81[CEU][hapmap];0.91[CHB][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs805376	0.87[AMR][1000 genomes]
rs805377	0.87[AMR][1000 genomes]
rs805378	0.87[AMR][1000 genomes]
rs805382	0.85[AMR][1000 genomes]
rs805384	0.85[AMR][1000 genomes]
rs805386	0.91[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes]
rs805387	0.86[AMR][1000 genomes]
rs805388	0.89[AMR][1000 genomes]
rs805390	0.89[AMR][1000 genomes]
rs805394	0.90[AMR][1000 genomes]
rs805397	0.93[AMR][1000 genomes]
rs805399	0.91[CHB][hapmap];0.91[AMR][1000 genomes]
rs805400	0.92[AMR][1000 genomes]
rs805401	0.91[CHB][hapmap];0.93[AMR][1000 genomes]
rs805404	0.81[CEU][hapmap];0.91[CHB][hapmap];0.93[AMR][1000 genomes]
rs805406	0.91[AMR][1000 genomes]
rs805407	0.91[AMR][1000 genomes]
rs805408	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[AMR][1000 genomes]
rs805409	0.90[AMR][1000 genomes]
rs805411	0.91[AMR][1000 genomes]
rs805414	0.91[AMR][1000 genomes]
rs805415	0.90[AMR][1000 genomes]
rs805419	0.90[AMR][1000 genomes]
rs805420	0.90[AMR][1000 genomes]
rs805425	0.89[AMR][1000 genomes]
rs805426	0.91[CHB][hapmap];0.86[AMR][1000 genomes]
rs805428	0.87[AMR][1000 genomes]
rs805429	0.87[AMR][1000 genomes]
rs805446	0.81[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs805447	0.81[CEU][hapmap];0.82[AMR][1000 genomes]
rs805449	0.81[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs805451	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs809281	0.82[AMR][1000 genomes]
rs809282	0.92[AMR][1000 genomes]
rs9631059	0.85[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2909459	PSME4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
2	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:54174200-54195600	Weak transcription	Thymus	Thymus
4	chr2:54175200-54195400	Weak transcription	Fetal Stomach	stomach
5	chr2:54176200-54194600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:54176200-54195400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:54176200-54195400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:54176200-54196000	Weak transcription	Fetal Thymus	thymus
9	chr2:54176200-54196200	Weak transcription	Placenta	Placenta
10	chr2:54176400-54194800	Weak transcription	NHLF	lung
11	chr2:54176400-54195000	Weak transcription	HSMM	muscle
12	chr2:54177000-54194800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:54177800-54195400	Weak transcription	Right Ventricle	heart
14	chr2:54180000-54195400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:54188400-54195400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:54188600-54195200	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:54188800-54195800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:54189000-54195400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:54189400-54195400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:54189600-54195600	Weak transcription	Fetal Kidney	kidney
21	chr2:54189800-54196400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:54190000-54196400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:54190200-54195000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:54190400-54194800	Weak transcription	Ovary	ovary
25	chr2:54190400-54195600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:54190400-54195600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:54190400-54197000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:54190600-54194600	Weak transcription	Small Intestine	intestine
29	chr2:54190600-54195400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:54190600-54195400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:54190600-54195800	Weak transcription	Colonic Mucosa	Colon
32	chr2:54190600-54196400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:54190600-54197000	Weak transcription	Esophagus	oesophagus
34	chr2:54190800-54194800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:54190800-54194800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:54190800-54195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:54191800-54195200	Enhancers	Psoas Muscle	Psoas
38	chr2:54191800-54195800	Enhancers	Primary B cells from peripheral blood	blood
39	chr2:54192000-54194600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:54192000-54194800	Weak transcription	Osteobl	bone
41	chr2:54192000-54195400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:54192200-54194600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:54192200-54195400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:54192400-54194600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:54192400-54194600	Weak transcription	HMEC	breast
46	chr2:54192400-54194800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:54192400-54194800	Weak transcription	Adipose Nuclei	Adipose
48	chr2:54192400-54194800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:54192400-54195400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:54192400-54195400	Enhancers	Lung	lung

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