Variant report

Variant	rs1224951
Chromosome Location	chr11:76548208-76548209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76546670..76552147-chr11:76556220..76560576,6	K562	blood:
2	chr11:76547374..76550137-chr11:76551533..76553464,2	K562	blood:
3	chr11:76548072..76552147-chr11:76556220..76559677,3	K562	blood:
4	chr11:76481325..76485010-chr11:76548090..76550777,4	MCF-7	breast:
5	chr11:76520966..76521849-chr11:76547711..76548249,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10736812	0.84[GIH][hapmap]
rs10793227	0.84[GIH][hapmap]
rs10793231	0.84[GIH][hapmap]
rs10899341	0.84[GIH][hapmap]
rs10899344	0.85[GIH][hapmap]
rs1149577	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1149626	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1224952	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1225127	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1225129	0.85[EUR][1000 genomes]
rs1225131	1.00[CEU][hapmap];0.80[CHB][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1225132	1.00[CEU][hapmap];0.82[CHB][hapmap];0.80[CHD][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1225133	0.83[EUR][1000 genomes]
rs1225134	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1225135	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1225136	1.00[CEU][hapmap];0.81[CHB][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1225137	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1225139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1225140	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs1225141	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs1225147	0.85[EUR][1000 genomes]
rs1225149	0.84[EUR][1000 genomes]
rs1234832	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1235157	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12794575	0.80[CEU][hapmap]
rs1372045	0.88[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.84[TSI][hapmap]
rs1372046	0.87[CEU][hapmap]
rs1517907	0.81[CEU][hapmap]
rs1589126	0.84[GIH][hapmap]
rs1660579	1.00[CEU][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2451908	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2826	0.84[GIH][hapmap]
rs3740765	0.84[GIH][hapmap]
rs3740767	0.81[GIH][hapmap]
rs3824889	0.81[GIH][hapmap]
rs4145048	0.84[GIH][hapmap]
rs4457775	0.81[CEU][hapmap]
rs4944132	0.80[CEU][hapmap]
rs4944134	0.84[GIH][hapmap]
rs4945129	0.81[GIH][hapmap]
rs591043	0.87[CEU][hapmap];0.84[GIH][hapmap]
rs6592671	0.88[CEU][hapmap]
rs6592683	0.81[GIH][hapmap]
rs7110532	0.81[GIH][hapmap]
rs7113290	0.81[CEU][hapmap]
rs7123496	0.84[GIH][hapmap]
rs7924613	0.86[CEU][hapmap]
rs7925135	0.81[CEU][hapmap];0.81[GIH][hapmap]
rs7925774	0.84[GIH][hapmap]
rs7927367	0.85[CEU][hapmap]
rs7931561	0.81[CEU][hapmap]
rs7932288	0.81[CEU][hapmap]
rs7943913	0.81[GIH][hapmap]
rs949339	0.84[GIH][hapmap]

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1224951	LIPT2	cis	parietal	SCAN
rs1224951	ODZ4	cis	parietal	SCAN
rs1224951	GDPD5	cis	parietal	SCAN
rs1224951	ACER3	cis	lymphoblastoid	seeQTL
rs1224951	ACER3	cis	cerebellum	SCAN
rs1224951	NEU3	cis	parietal	SCAN
rs1224951	CAPN5	cis	parietal	SCAN
rs1224951	ACER3	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76535400-76549000	Weak transcription	Small Intestine	intestine
2	chr11:76542400-76548800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:76544600-76548800	Enhancers	Fetal Stomach	stomach
4	chr11:76545000-76551200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr11:76545800-76548600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:76546000-76550600	Enhancers	Adipose Nuclei	Adipose
7	chr11:76546400-76551200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr11:76546800-76548800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:76546800-76551600	Enhancers	K562	blood
10	chr11:76547000-76548400	Enhancers	A549	lung
11	chr11:76547000-76549600	Enhancers	Hela-S3	cervix
12	chr11:76547000-76549600	Enhancers	HMEC	breast
13	chr11:76547000-76550000	Enhancers	Gastric	stomach
14	chr11:76547000-76550000	Enhancers	Pancreas	Pancrea
15	chr11:76547000-76550600	Enhancers	Lung	lung
16	chr11:76547000-76550800	Enhancers	Placenta	Placenta
17	chr11:76547000-76551200	Enhancers	Duodenum Mucosa	Duodenum
18	chr11:76547000-76551200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:76547200-76549200	Enhancers	Spleen	Spleen
20	chr11:76547200-76549600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:76547200-76549600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr11:76547200-76550000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:76547200-76550400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:76547200-76550400	Enhancers	Fetal Muscle Leg	muscle
25	chr11:76547200-76550600	Enhancers	Colonic Mucosa	Colon
26	chr11:76547200-76550600	Enhancers	Esophagus	oesophagus
27	chr11:76547400-76549600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:76547400-76551200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:76547600-76548400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr11:76547600-76548400	Enhancers	Right Atrium	heart
31	chr11:76547600-76548600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:76547600-76549200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:76547600-76549200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr11:76547600-76549800	Enhancers	Brain Substantia Nigra	brain
35	chr11:76547600-76550600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:76547800-76548400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr11:76547800-76548800	Weak transcription	Brain Germinal Matrix	brain
38	chr11:76547800-76549000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:76547800-76549400	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:76547800-76550000	Enhancers	Left Ventricle	heart
41	chr11:76547800-76550200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr11:76547800-76550200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr11:76547800-76550400	Enhancers	Brain Hippocampus Middle	brain
44	chr11:76548000-76548400	Weak transcription	Brain Angular Gyrus	brain
45	chr11:76548000-76548400	Bivalent Enhancer	NHDF-Ad	bronchial
46	chr11:76548000-76548800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:76548000-76549000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr11:76548000-76550200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:76548000-76550200	Weak transcription	NHEK	skin
50	chr11:76548000-76550800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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