Variant report

Variant	rs12224154
Chromosome Location	chr11:33778729-33778730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:33777788..33782173-chr11:33783108..33786558,6	K562	blood:

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10768025	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10836107	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10836110	0.86[CEU][hapmap]
rs11032367	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11032372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11032373	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1112841	0.95[CEU][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12806824	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1522084	0.86[CEU][hapmap]
rs1522085	1.00[CEU][hapmap];0.98[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1718067	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2272064	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]
rs2686245	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2746601	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2746602	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4348870	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4756002	0.86[CEU][hapmap]
rs6484665	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7116243	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7938603	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs831592	1.00[CEU][hapmap];0.98[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs831595	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs831611	1.00[ASW][hapmap]
rs831625	1.00[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs831635	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs861256	0.87[GIH][hapmap];0.80[MEX][hapmap]
rs884710	0.86[CEU][hapmap]
rs953142	0.86[CEU][hapmap]
rs999479	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523356	chr11:33777334-33797408	Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs12224154	FBXO3	cis	cerebellum	SCAN
rs12224154	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs12224154	EIF3M	cis	parietal	SCAN
rs12224154	CD59	cis	Thyroid	GTEx
rs12224154	CD59	cis	Esophagus Muscularis	GTEx
rs12224154	CD59	cis	cerebellum	SCAN
rs12224154	CD59	cis	Artery Tibial	GTEx
rs12224154	CD59	cis	parietal	SCAN

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	chr11:33759000-33780800	Weak transcription	Psoas Muscle	Psoas
3	chr11:33759000-33781000	Weak transcription	Fetal Brain Male	brain
4	chr11:33759000-33795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:33760400-33785200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:33763200-33792200	Strong transcription	Fetal Thymus	thymus
7	chr11:33763200-33792400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:33764000-33781600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:33764200-33792000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:33764400-33791200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:33764400-33792200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:33764400-33792400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr11:33764400-33792400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:33764600-33785200	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:33765200-33780000	Weak transcription	Right Ventricle	heart
16	chr11:33765200-33785800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:33765400-33780000	Weak transcription	Aorta	Aorta
18	chr11:33765400-33793800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:33766600-33787600	Weak transcription	Stomach Mucosa	stomach
20	chr11:33767000-33779000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:33767200-33780800	Weak transcription	HepG2	liver
22	chr11:33767400-33791400	Strong transcription	Placenta	Placenta
23	chr11:33767600-33785800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:33767600-33792400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:33767800-33781000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:33767800-33784000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:33767800-33784600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:33767800-33785800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:33767800-33792200	Strong transcription	Adipose Nuclei	Adipose
30	chr11:33767800-33792400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr11:33768000-33785800	Weak transcription	Small Intestine	intestine
32	chr11:33768200-33780000	Weak transcription	K562	blood
33	chr11:33769000-33782200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:33769600-33783800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr11:33769600-33795000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:33769800-33780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:33770000-33780000	Weak transcription	A549	lung
38	chr11:33770200-33791200	Strong transcription	Liver	Liver
39	chr11:33770400-33789200	Weak transcription	NHLF	lung
40	chr11:33770800-33791600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr11:33771000-33779000	Strong transcription	Brain Hippocampus Middle	brain
42	chr11:33772200-33785800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:33772600-33785400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:33774400-33779000	Strong transcription	Primary T cells from cord blood	blood
45	chr11:33774400-33779800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:33774400-33782400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:33774400-33782600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:33774600-33778800	Strong transcription	Colon Smooth Muscle	Colon
49	chr11:33774600-33782600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:33774800-33779600	Strong transcription	Brain Substantia Nigra	brain

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