Variant report

Variant	rs2949814
Chromosome Location	chr2:54078980-54078981
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:54078895-54079016	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
MIR3682	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10490468	0.82[ASN][1000 genomes]
rs1232	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2542572	0.83[ASN][1000 genomes]
rs2542573	0.87[ASN][1000 genomes]
rs2542578	0.86[ASN][1000 genomes]
rs2542580	0.86[ASN][1000 genomes]
rs2542589	0.86[ASN][1000 genomes]
rs2542590	0.86[ASN][1000 genomes]
rs2542591	0.86[ASN][1000 genomes]
rs2542592	0.87[ASN][1000 genomes]
rs2543629	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2692512	0.89[ASN][1000 genomes]
rs2692513	0.89[ASN][1000 genomes]
rs2692519	0.84[ASN][1000 genomes]
rs2692521	0.87[ASN][1000 genomes]
rs2692522	0.87[ASN][1000 genomes]
rs2692523	0.86[ASN][1000 genomes]
rs2949810	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2949813	0.83[ASN][1000 genomes]
rs698855	0.81[AMR][1000 genomes]
rs805311	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs805313	0.81[AMR][1000 genomes]
rs805316	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805325	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805326	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805327	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805334	0.81[AMR][1000 genomes]
rs805337	0.92[AMR][1000 genomes]
rs805338	0.92[AMR][1000 genomes]
rs805340	0.91[AMR][1000 genomes]
rs805368	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805376	0.81[AMR][1000 genomes]
rs805377	0.81[AMR][1000 genomes]
rs805378	0.81[AMR][1000 genomes]
rs805383	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805385	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805397	0.81[AMR][1000 genomes]
rs805398	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805401	0.81[AMR][1000 genomes]
rs805404	0.81[AMR][1000 genomes]
rs805413	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805435	0.86[ASN][1000 genomes]
rs805437	0.93[ASN][1000 genomes]
rs805446	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805447	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805449	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805451	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs809281	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2949814	PSME4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54025800-54085600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:54046600-54080200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:54046600-54080200	Weak transcription	NHDF-Ad	bronchial
4	chr2:54046800-54080400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:54047000-54080200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:54047000-54080200	Weak transcription	A549	lung
7	chr2:54047000-54080400	Weak transcription	Gastric	stomach
8	chr2:54047000-54080400	Weak transcription	Pancreas	Pancrea
9	chr2:54047000-54080800	Weak transcription	Aorta	Aorta
10	chr2:54047200-54080000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:54047200-54080200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:54047200-54080200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:54047200-54080200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:54047200-54080400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:54047200-54080400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:54047200-54080800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:54047600-54080400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:54047600-54080800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:54050200-54080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:54050400-54080200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:54050600-54080200	Weak transcription	Fetal Stomach	stomach
22	chr2:54051000-54080000	Weak transcription	Osteobl	bone
23	chr2:54054000-54080400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:54054400-54080400	Weak transcription	NHLF	lung
25	chr2:54055200-54080400	Weak transcription	Ovary	ovary
26	chr2:54055200-54081000	Weak transcription	Psoas Muscle	Psoas
27	chr2:54055400-54080000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:54056200-54080200	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:54056800-54080200	Weak transcription	Brain Substantia Nigra	brain
30	chr2:54057200-54080200	Weak transcription	Brain Angular Gyrus	brain
31	chr2:54057200-54080200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:54057200-54080200	Weak transcription	Fetal Brain Female	brain
33	chr2:54057200-54080200	Weak transcription	Left Ventricle	heart
34	chr2:54057400-54080200	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:54060000-54080200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:54060000-54080200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:54060200-54080200	Weak transcription	Primary T cells from cord blood	blood
38	chr2:54061600-54080200	Weak transcription	Primary B cells from cord blood	blood
39	chr2:54063200-54080000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:54063200-54080400	Weak transcription	Esophagus	oesophagus
41	chr2:54063400-54080200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:54063400-54080200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:54063400-54080200	Weak transcription	Lung	lung
44	chr2:54064000-54080200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:54064800-54080200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:54065400-54080200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:54069600-54080800	Weak transcription	Fetal Kidney	kidney
48	chr2:54070600-54080600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr2:54070800-54080200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:54071000-54080200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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