Variant report

Variant	rs2272064
Chromosome Location	chr11:33775794-33775795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:33775083..33776603-chr13:22049742..22051601,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10768025	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836107	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836110	0.86[CEU][hapmap]
rs1096561	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11032367	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032372	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11032373	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1112841	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12224154	1.00[CEU][hapmap];0.98[GIH][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12806824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1522084	0.86[CEU][hapmap]
rs1522085	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1718067	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2252927	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2686245	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2746601	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2746602	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4348870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4756002	0.86[CEU][hapmap];0.81[GIH][hapmap]
rs6484665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938603	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs831592	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs831595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831629	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs831633	0.81[CHB][hapmap]
rs861256	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs884710	0.86[CEU][hapmap]
rs953142	0.86[CEU][hapmap]
rs999479	0.81[CEU][hapmap]

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2272064	CD59	cis	Esophagus Muscularis	GTEx
rs2272064	CD59	cis	parietal	SCAN
rs2272064	CD59	cis	cerebellum	SCAN
rs2272064	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs2272064	EIF3M	cis	parietal	SCAN
rs2272064	CD59	cis	Artery Tibial	GTEx
rs2272064	FBXO3	cis	cerebellum	SCAN
rs2272064	CD59	cis	Nerve Tibial	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33758800-33795000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:33759000-33778400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:33759000-33780800	Weak transcription	Psoas Muscle	Psoas
4	chr11:33759000-33781000	Weak transcription	Fetal Brain Male	brain
5	chr11:33759000-33795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:33759400-33778200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:33760400-33785200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:33763200-33792200	Strong transcription	Fetal Thymus	thymus
9	chr11:33763200-33792400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:33764000-33781600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:33764200-33792000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:33764400-33791200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:33764400-33792200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr11:33764400-33792400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr11:33764400-33792400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr11:33764600-33785200	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:33764800-33777000	Weak transcription	Gastric	stomach
18	chr11:33765200-33778400	Weak transcription	Pancreas	Pancrea
19	chr11:33765200-33780000	Weak transcription	Right Ventricle	heart
20	chr11:33765200-33785800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:33765400-33780000	Weak transcription	Aorta	Aorta
22	chr11:33765400-33793800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:33766600-33787600	Weak transcription	Stomach Mucosa	stomach
24	chr11:33766800-33776000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:33767000-33779000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:33767200-33780800	Weak transcription	HepG2	liver
27	chr11:33767400-33791400	Strong transcription	Placenta	Placenta
28	chr11:33767600-33776800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:33767600-33785800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:33767600-33792400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:33767800-33781000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:33767800-33784000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:33767800-33784600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:33767800-33785800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:33767800-33792200	Strong transcription	Adipose Nuclei	Adipose
36	chr11:33767800-33792400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr11:33768000-33785800	Weak transcription	Small Intestine	intestine
38	chr11:33768200-33780000	Weak transcription	K562	blood
39	chr11:33769000-33782200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:33769600-33783800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr11:33769600-33795000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:33769800-33780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr11:33770000-33780000	Weak transcription	A549	lung
44	chr11:33770200-33791200	Strong transcription	Liver	Liver
45	chr11:33770400-33789200	Weak transcription	NHLF	lung
46	chr11:33770800-33791600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr11:33771000-33779000	Strong transcription	Brain Hippocampus Middle	brain
48	chr11:33771200-33778000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:33771400-33776400	Weak transcription	Fetal Intestine Small	intestine
50	chr11:33771400-33776400	Weak transcription	Fetal Stomach	stomach

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