Variant report

Variant	rs1945146
Chromosome Location	chr11:86291818-86291819
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	chr11:86290858..86293658-chr11:86295184..86297088,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10792860	0.82[MEX][hapmap]
rs12287767	0.90[MEX][hapmap]
rs17211115	0.90[MEX][hapmap]
rs1945143	0.81[GIH][hapmap]
rs2051433	0.81[AMR][1000 genomes]
rs4944595	0.90[MEX][hapmap]
rs7103271	0.86[MEX][hapmap]
rs7940772	0.86[MEX][hapmap];0.81[AMR][1000 genomes]
rs7951185	0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1808984	chr11:86282680-86301717	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv555677	chr11:86285994-86291818	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv555678	chr11:86285994-86305977	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv555684	chr11:86286341-86291818	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1945146	ME3	cis	multi-tissue	Pritchard

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86275400-86299400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:86276400-86299800	Weak transcription	Fetal Brain Male	brain
3	chr11:86286000-86299400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:86286400-86298200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:86287200-86292000	Enhancers	Right Ventricle	heart
6	chr11:86287400-86292000	Enhancers	Ovary	ovary
7	chr11:86287600-86293400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr11:86288600-86293400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:86288600-86293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:86289200-86292000	Enhancers	Pancreas	Pancrea
11	chr11:86289200-86292000	Enhancers	Right Atrium	heart
12	chr11:86289200-86292200	Enhancers	Fetal Intestine Large	intestine
13	chr11:86289800-86292000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr11:86289800-86292000	Enhancers	Stomach Smooth Muscle	stomach
15	chr11:86289800-86293000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:86289800-86293800	Weak transcription	Brain Anterior Caudate	brain
17	chr11:86289800-86303200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:86289800-86303400	Weak transcription	Stomach Mucosa	stomach
19	chr11:86290000-86293600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:86290000-86293800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:86290400-86292600	Weak transcription	Aorta	Aorta
22	chr11:86290600-86298200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:86290600-86299400	Weak transcription	Psoas Muscle	Psoas
24	chr11:86290800-86293800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:86290800-86298200	Weak transcription	HMEC	breast
26	chr11:86290800-86299200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:86291000-86292200	Enhancers	Fetal Intestine Small	intestine
28	chr11:86291000-86292200	Enhancers	Fetal Kidney	kidney
29	chr11:86291200-86292000	Enhancers	Gastric	stomach
30	chr11:86291200-86292200	Flanking Active TSS	A549	lung
31	chr11:86291400-86292200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:86291400-86293800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:86291400-86298200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:86291600-86292000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:86291600-86292000	Enhancers	Fetal Stomach	stomach
36	chr11:86291600-86292400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:86291800-86292000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr11:86291800-86292000	Enhancers	Fetal Muscle Leg	muscle
39	chr11:86291800-86292200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:86291800-86292200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr11:86291800-86292200	Enhancers	HepG2	liver
42	chr11:86291800-86292400	Enhancers	Adipose Nuclei	Adipose
43	chr11:86291800-86293000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:86291800-86293200	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:86291800-86294800	Weak transcription	Fetal Muscle Trunk	muscle

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