Variant report

Variant	rs805447
Chromosome Location	chr2:54177130-54177131
allele	G/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	chr2:54177071-54177476	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:54174802..54180100-chr2:54196834..54199105,5	K562	blood:
2	chr2:54166145..54169657-chr2:54176630..54180316,3	K562	blood:
3	chr2:54176939..54180611-chr2:54194148..54196574,3	K562	blood:

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

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11890838	1.00[YRI][hapmap]
rs1232	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17045203	0.84[CHB][hapmap]
rs2287340	0.84[CHB][hapmap]
rs2302879	0.81[AMR][1000 genomes]
rs2542572	0.81[CHB][hapmap]
rs2542582	0.92[CHB][hapmap]
rs2542589	0.93[CHB][hapmap]
rs2542591	0.93[CHB][hapmap]
rs2542592	1.00[CHB][hapmap]
rs2543629	0.80[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap]
rs2692519	0.92[CHB][hapmap]
rs2692533	0.92[CHB][hapmap]
rs2909459	0.81[CEU][hapmap];0.82[AMR][1000 genomes]
rs2949810	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2949813	0.92[CHB][hapmap]
rs2949814	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2949815	0.82[AFR][1000 genomes]
rs4671746	0.82[AMR][1000 genomes]
rs56302494	0.82[AMR][1000 genomes]
rs62139336	0.80[AMR][1000 genomes]
rs698855	0.87[CEU][hapmap]
rs805310	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs805311	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs805312	0.81[AMR][1000 genomes]
rs805313	0.81[AMR][1000 genomes]
rs805316	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805319	0.81[AMR][1000 genomes]
rs805321	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs805323	0.81[AMR][1000 genomes]
rs805325	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs805326	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs805327	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs805328	0.81[YRI][hapmap];0.81[AMR][1000 genomes]
rs805334	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs805337	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805340	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs805344	0.87[AFR][1000 genomes]
rs805346	0.81[AMR][1000 genomes]
rs805347	0.81[AMR][1000 genomes]
rs805351	0.83[CEU][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes]
rs805352	0.87[CEU][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes]
rs805353	0.80[ASN][1000 genomes]
rs805354	0.85[AMR][1000 genomes]
rs805355	0.85[AMR][1000 genomes]
rs805356	0.85[AMR][1000 genomes]
rs805357	0.85[AMR][1000 genomes]
rs805362	0.85[AMR][1000 genomes]
rs805363	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs805365	0.87[CEU][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs805368	0.88[AMR][1000 genomes]
rs805383	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs805385	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs805397	0.81[AMR][1000 genomes]
rs805398	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs805399	0.82[CEU][hapmap]
rs805401	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs805404	0.87[CEU][hapmap];0.81[AMR][1000 genomes]
rs805413	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs805426	0.82[CEU][hapmap]
rs805437	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs805446	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805448	0.95[ASN][1000 genomes]
rs805449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805451	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805452	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs809281	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs805447	PSME4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 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	chr2:54108200-54177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:54109800-54179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:54143000-54177600	Strong transcription	HepG2	liver
5	chr2:54151000-54189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:54153200-54179800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
8	chr2:54156600-54188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:54156600-54190000	Weak transcription	Spleen	Spleen
10	chr2:54159200-54177200	Weak transcription	Right Ventricle	heart
11	chr2:54159200-54188000	Weak transcription	Colonic Mucosa	Colon
12	chr2:54159200-54188000	Weak transcription	Esophagus	oesophagus
13	chr2:54159200-54188200	Weak transcription	Small Intestine	intestine
14	chr2:54159200-54189400	Weak transcription	Aorta	Aorta
15	chr2:54159200-54189800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:54160800-54177200	Weak transcription	Lung	lung
18	chr2:54160800-54179400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:54161600-54189800	Weak transcription	Ovary	ovary
20	chr2:54163600-54180400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:54169000-54177400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:54171000-54188600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:54172800-54179200	Weak transcription	Brain Angular Gyrus	brain
24	chr2:54172800-54184400	Weak transcription	Brain Anterior Caudate	brain
25	chr2:54172800-54184600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:54173400-54191400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:54174000-54184600	Weak transcription	Left Ventricle	heart
28	chr2:54174200-54195600	Weak transcription	Thymus	Thymus
29	chr2:54174400-54177600	Weak transcription	Brain Germinal Matrix	brain
30	chr2:54174400-54177600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:54174400-54178400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:54174400-54179600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:54174400-54180000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:54174400-54182800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:54174400-54184200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:54174400-54184600	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:54174400-54188000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:54174400-54188600	Weak transcription	GM12878-XiMat	blood
39	chr2:54174600-54178200	Weak transcription	Fetal Lung	lung
40	chr2:54174600-54180400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:54175000-54179800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:54175200-54177200	Weak transcription	Gastric	stomach
43	chr2:54175200-54179200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:54175200-54193000	Weak transcription	Fetal Intestine Small	intestine
45	chr2:54175200-54195400	Weak transcription	Fetal Stomach	stomach
46	chr2:54175400-54188400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:54175600-54184200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:54175800-54184400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:54175800-54189800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:54175800-54190000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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