Variant report

Variant	rs4144718
Chromosome Location	chr11:46033649-46033650
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	chr11:46024538..46028805-chr11:46032055..46036011,4	K562	blood:
2	chr11:46014298..46016604-chr11:46031314..46033806,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10742774	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs10769176	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs10769179	0.99[ASN][1000 genomes]
rs10838533	0.95[CEU][hapmap];0.89[AMR][1000 genomes]
rs10838535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11038720	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11038723	0.86[ASN][1000 genomes]
rs11038745	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1125291	0.97[ASN][1000 genomes]
rs12277800	0.94[ASN][1000 genomes]
rs1996573	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs2860404	0.87[CHD][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs2945997	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2945999	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2946001	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2946003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2946004	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2959084	0.87[JPT][hapmap];1.00[YRI][hapmap]
rs2959087	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2959090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2959091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2959098	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2959099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2959101	0.89[CHD][hapmap];0.83[MEX][hapmap]
rs2959102	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4073513	0.84[CHD][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];1.00[YRI][hapmap]
rs4237659	0.96[ASN][1000 genomes]
rs4237660	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756044	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs4756051	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs4756055	0.87[JPT][hapmap];1.00[YRI][hapmap]
rs6485654	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7108028	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7108186	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7128184	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7130281	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7350495	0.82[EUR][1000 genomes]
rs7926314	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7935308	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7948502	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7950336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950391	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs884668	0.81[CEU][hapmap]
rs939107	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs950105	0.87[JPT][hapmap];1.00[YRI][hapmap]
rs953230	0.81[CHD][hapmap];0.83[MEX][hapmap];0.84[YRI][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4144718	PHF21A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46001400-46070400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:46002000-46042400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:46002000-46056200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:46012800-46062800	Weak transcription	GM12878-XiMat	blood
5	chr11:46016200-46048200	Weak transcription	Esophagus	oesophagus
6	chr11:46016800-46044000	Weak transcription	Primary T cells from cord blood	blood
7	chr11:46022000-46074600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:46023400-46038200	Weak transcription	A549	lung
9	chr11:46023400-46041800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:46023400-46047800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:46023400-46048200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:46023600-46041600	Weak transcription	Ovary	ovary
13	chr11:46023600-46046400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:46024800-46042600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:46025600-46041800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr11:46025600-46047400	Weak transcription	HSMMtube	muscle
17	chr11:46025600-46056200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:46026200-46055600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:46026400-46033800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:46026400-46034000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:46026400-46047800	Weak transcription	HSMM	muscle
22	chr11:46030000-46041800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr11:46031200-46034200	Enhancers	K562	blood
24	chr11:46031400-46048400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:46032200-46037400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:46032200-46042400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:46032400-46034800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:46032400-46035200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr11:46032400-46048400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:46032600-46042800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:46032600-46052800	Weak transcription	Fetal Lung	lung
32	chr11:46033000-46034600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:46033000-46034600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr11:46033200-46035000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:46033400-46033800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr11:46033400-46034000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:46033400-46034600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:46033400-46035000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:46033400-46035200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr11:46033400-46035200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr11:46033400-46035400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr11:46033600-46034000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr11:46033600-46034200	Enhancers	Brain Hippocampus Middle	brain
44	chr11:46033600-46034200	Enhancers	Colon Smooth Muscle	Colon
45	chr11:46033600-46034400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:46033600-46034400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr11:46033600-46034400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr11:46033600-46034400	Strong transcription	Primary B cells from cord blood	blood
49	chr11:46033600-46035200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:46033600-46035400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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