Variant report

Variant	rs12280455
Chromosome Location	chr11:47020167-47020168
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	chr11:47019891..47022627-chr11:47029015..47030790,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10838638	0.87[YRI][hapmap];0.90[AMR][1000 genomes]
rs11039048	0.90[AMR][1000 genomes]
rs11488791	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12224831	0.90[AMR][1000 genomes]
rs12273333	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274845	0.83[ASW][hapmap];0.82[LWK][hapmap];0.87[MKK][hapmap];0.89[AMR][1000 genomes]
rs12290283	0.83[AMR][1000 genomes]
rs12291377	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2035067	0.88[ASW][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes]
rs4752814	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs57683872	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs59520560	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60741480	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485713	0.88[ASW][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6485718	1.00[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7117243	0.89[AMR][1000 genomes]
rs7117590	0.83[ASW][hapmap];0.82[LWK][hapmap];0.87[MKK][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7123059	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73462027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7935192	0.83[ASW][hapmap];0.82[LWK][hapmap];0.87[MKK][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7940468	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7944021	0.89[AMR][1000 genomes]
rs7945052	0.89[AMR][1000 genomes]
rs9804415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9971621	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1805201	chr11:46971012-47063429	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv1819852	chr11:46971012-47064542	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12280455	ACP2	cis	lymphoblastoid	seeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46980600-47021000	Weak transcription	Ovary	ovary
2	chr11:46980600-47026000	Weak transcription	HSMM	muscle
3	chr11:46981200-47023400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr11:46983000-47024000	Weak transcription	Primary B cells from cord blood	blood
5	chr11:46989200-47026000	Weak transcription	Dnd41	blood
6	chr11:46994000-47026000	Weak transcription	Colonic Mucosa	Colon
7	chr11:46994200-47021000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:46996000-47025800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:46998800-47023200	Weak transcription	Fetal Brain Male	brain
10	chr11:46999600-47023600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:47000000-47024600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:47000200-47025200	Weak transcription	NH-A	brain
13	chr11:47000200-47026400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:47000400-47023400	Weak transcription	Osteobl	bone
15	chr11:47000400-47024600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:47000400-47026600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:47003400-47021000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:47003400-47032800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:47003600-47024600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:47005400-47026200	Weak transcription	Fetal Intestine Large	intestine
21	chr11:47005800-47024000	Weak transcription	K562	blood
22	chr11:47005800-47025800	Weak transcription	HSMMtube	muscle
23	chr11:47006000-47023600	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:47006000-47026400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:47006800-47023400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:47006800-47023600	Weak transcription	NHLF	lung
27	chr11:47006800-47026000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:47007000-47024000	Weak transcription	Small Intestine	intestine
29	chr11:47007200-47023800	Weak transcription	Fetal Intestine Small	intestine
30	chr11:47007200-47024000	Weak transcription	Fetal Thymus	thymus
31	chr11:47007400-47026000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:47009000-47020600	Weak transcription	Lung	lung
33	chr11:47009600-47023400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:47009800-47023600	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:47011000-47024600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:47011400-47023400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:47011600-47021000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:47011600-47024600	Weak transcription	Adipose Nuclei	Adipose
39	chr11:47011800-47021800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:47011800-47023200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:47011800-47023400	Weak transcription	Brain Anterior Caudate	brain
42	chr11:47011800-47023600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:47011800-47023800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr11:47011800-47026000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:47012000-47023800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:47012000-47026000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:47012800-47023600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:47013200-47022600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:47013200-47023600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:47013400-47023400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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