Variant report

Variant	rs805451
Chromosome Location	chr2:54181529-54181530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54174239..54176293-chr2:54179701..54182021,2	MCF-7	breast:
2	chr2:54173721..54175939-chr2:54181510..54183998,2	K562	blood:
3	chr2:54179674..54181660-chr2:54183447..54186390,2	MCF-7	breast:
4	chr2:54179906..54182578-chr2:54184932..54187194,2	K562	blood:
5	chr2:54180002..54182412-chr2:54196011..54198361,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068878	Chromatin interaction
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1232	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2909459	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2949810	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2949814	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4671746	0.80[AMR][1000 genomes]
rs55692047	0.80[AMR][1000 genomes]
rs56302494	0.80[AMR][1000 genomes]
rs62139336	0.82[AMR][1000 genomes]
rs698857	0.80[AMR][1000 genomes]
rs805311	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805313	0.82[AMR][1000 genomes]
rs805316	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805325	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805326	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805327	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805334	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs805337	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805338	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805340	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs805351	0.83[AMR][1000 genomes]
rs805352	0.83[AMR][1000 genomes]
rs805353	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs805354	0.83[AMR][1000 genomes]
rs805355	0.83[AMR][1000 genomes]
rs805356	0.83[AMR][1000 genomes]
rs805357	0.83[AMR][1000 genomes]
rs805362	0.83[AMR][1000 genomes]
rs805365	0.81[AMR][1000 genomes]
rs805368	0.89[AMR][1000 genomes]
rs805383	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs805385	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs805397	0.82[AMR][1000 genomes]
rs805398	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs805399	0.80[AMR][1000 genomes]
rs805400	0.81[AMR][1000 genomes]
rs805401	0.82[AMR][1000 genomes]
rs805404	0.82[AMR][1000 genomes]
rs805406	0.80[AMR][1000 genomes]
rs805407	0.80[AMR][1000 genomes]
rs805408	0.80[AMR][1000 genomes]
rs805411	0.80[AMR][1000 genomes]
rs805413	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs805414	0.80[AMR][1000 genomes]
rs805446	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805447	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805448	0.93[ASN][1000 genomes]
rs805449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805452	1.00[ASN][1000 genomes]
rs809281	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs809282	0.81[AMR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs805451	PSME4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
2	chr2:54151000-54189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
4	chr2:54156600-54188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:54156600-54190000	Weak transcription	Spleen	Spleen
6	chr2:54159200-54188000	Weak transcription	Colonic Mucosa	Colon
7	chr2:54159200-54188000	Weak transcription	Esophagus	oesophagus
8	chr2:54159200-54188200	Weak transcription	Small Intestine	intestine
9	chr2:54159200-54189400	Weak transcription	Aorta	Aorta
10	chr2:54159200-54189800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:54161600-54189800	Weak transcription	Ovary	ovary
13	chr2:54171000-54188600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:54172800-54184400	Weak transcription	Brain Anterior Caudate	brain
15	chr2:54172800-54184600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:54173400-54191400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:54174000-54184600	Weak transcription	Left Ventricle	heart
18	chr2:54174200-54195600	Weak transcription	Thymus	Thymus
19	chr2:54174400-54182800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:54174400-54184200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:54174400-54184600	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:54174400-54188000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:54174400-54188600	Weak transcription	GM12878-XiMat	blood
24	chr2:54175200-54193000	Weak transcription	Fetal Intestine Small	intestine
25	chr2:54175200-54195400	Weak transcription	Fetal Stomach	stomach
26	chr2:54175400-54188400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:54175600-54184200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:54175800-54184400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:54175800-54189800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:54175800-54190000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:54176000-54184600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:54176000-54187800	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:54176000-54189800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:54176200-54182800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:54176200-54184000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:54176200-54184600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:54176200-54184600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:54176200-54188400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:54176200-54188400	Weak transcription	HMEC	breast
40	chr2:54176200-54188600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr2:54176200-54189800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:54176200-54189800	Weak transcription	NH-A	brain
43	chr2:54176200-54191600	Weak transcription	NHDF-Ad	bronchial
44	chr2:54176200-54192000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:54176200-54194200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:54176200-54194600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:54176200-54195400	Weak transcription	Fetal Intestine Large	intestine
48	chr2:54176200-54195400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:54176200-54196000	Weak transcription	Fetal Thymus	thymus
50	chr2:54176200-54196200	Weak transcription	Placenta	Placenta

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