Variant report

Variant	rs805355
Chromosome Location	chr2:54160818-54160819
allele	C/T
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	chr2:54160680-54160996	K562	blood:	n/a	n/a
2	POLR2A	chr2:54160767-54160849	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54157567..54166967-chr2:54194910..54201681,12	MCF-7	breast:

Variant related genes	Relation type
PSME4	TF binding region
ENSG00000068878	Chromatin interaction
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11683741	0.85[AMR][1000 genomes]
rs11689025	0.85[AMR][1000 genomes]
rs11898855	0.85[AMR][1000 genomes]
rs17045452	0.83[AMR][1000 genomes]
rs2302879	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28851028	0.86[AMR][1000 genomes]
rs2909459	0.94[AMR][1000 genomes]
rs2949815	0.83[AMR][1000 genomes]
rs4671746	0.94[AMR][1000 genomes]
rs55692047	0.92[AMR][1000 genomes]
rs56302494	0.94[AMR][1000 genomes]
rs62139336	0.93[AMR][1000 genomes]
rs6545377	0.85[AMR][1000 genomes]
rs6545381	0.86[AMR][1000 genomes]
rs6714450	0.85[AMR][1000 genomes]
rs698855	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs698857	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7559384	0.86[AMR][1000 genomes]
rs805310	0.87[AMR][1000 genomes]
rs805312	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805313	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805314	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805315	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805319	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805321	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805323	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805328	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805329	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805337	0.83[AMR][1000 genomes]
rs805338	0.83[AMR][1000 genomes]
rs805340	0.82[AMR][1000 genomes]
rs805344	0.87[AMR][1000 genomes]
rs805346	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805347	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805348	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805349	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs805351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805357	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805362	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs805363	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805365	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805376	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs805377	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs805378	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs805382	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs805384	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs805386	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805387	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805388	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805390	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805394	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805397	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805399	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805400	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805401	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805404	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs805406	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs805407	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs805408	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805409	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805411	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805414	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805415	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs805416	0.83[ASN][1000 genomes]
rs805419	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805420	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805425	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805426	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805428	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805429	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805446	0.81[AMR][1000 genomes]
rs805447	0.85[AMR][1000 genomes]
rs805449	0.83[AMR][1000 genomes]
rs805451	0.83[AMR][1000 genomes]
rs809281	0.82[AMR][1000 genomes]
rs809282	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs805355	PSME4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54087000-54168000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:54087200-54176000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
4	chr2:54108200-54177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:54109800-54179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:54122200-54172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:54126200-54167600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:54135600-54172200	Weak transcription	Fetal Heart	heart
9	chr2:54139200-54176600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:54139200-54177000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:54139400-54167200	Strong transcription	Liver	Liver
12	chr2:54139400-54167800	Strong transcription	Dnd41	blood
13	chr2:54139400-54176200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:54139600-54170800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:54139600-54177000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:54141200-54161400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:54141200-54166200	Strong transcription	Primary B cells from cord blood	blood
18	chr2:54141200-54167200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:54141400-54166600	Strong transcription	NH-A	brain
20	chr2:54141400-54167400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:54141400-54167600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:54141400-54170600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:54141600-54167000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:54141600-54167000	Strong transcription	Osteobl	bone
25	chr2:54142000-54165000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:54142000-54165600	Strong transcription	Adipose Nuclei	Adipose
27	chr2:54142000-54167200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:54142000-54167200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr2:54142200-54167200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:54142200-54167800	Strong transcription	HSMM	muscle
31	chr2:54142400-54166200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:54142400-54166600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:54143000-54166200	Strong transcription	HUVEC	blood vessel
34	chr2:54143000-54177600	Strong transcription	HepG2	liver
35	chr2:54143200-54167400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:54143400-54162200	Strong transcription	NHDF-Ad	bronchial
37	chr2:54143400-54165400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:54143400-54167000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:54143400-54176200	Strong transcription	HMEC	breast
40	chr2:54144200-54166600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr2:54144400-54164600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:54144400-54166000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr2:54144400-54167800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:54144600-54165000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:54144600-54165800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr2:54144600-54166200	Strong transcription	Placenta	Placenta
47	chr2:54144600-54166400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr2:54144600-54167400	Strong transcription	Fetal Intestine Large	intestine
49	chr2:54145000-54165600	Strong transcription	Primary hematopoietic stem cells	blood
50	chr2:54145000-54165600	Strong transcription	Duodenum Smooth Muscle	Duodenum

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