Variant report

Variant	rs12222517
Chromosome Location	chr11:119543866-119543867
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	chr11:119542138..119544074-chr11:119592061..119594692,2	MCF-7	breast:
2	chr11:119543570..119545127-chr11:119552046..119553908,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10892430	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10892431	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10892432	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11217386	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11217389	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217394	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217395	1.00[AFR][1000 genomes]
rs11217396	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217398	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11217399	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217400	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11217401	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11217402	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217403	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11217406	1.00[ASN][1000 genomes]
rs11217407	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217409	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11217412	0.93[ASN][1000 genomes]
rs12577411	1.00[AFR][1000 genomes]
rs12577412	1.00[AFR][1000 genomes]
rs17123203	1.00[ASN][1000 genomes]
rs57088022	1.00[ASN][1000 genomes]
rs58117702	1.00[ASN][1000 genomes]
rs60865388	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv984471	chr11:119505802-119568473	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119530200-119546000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:119532400-119544400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:119535200-119544200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:119535200-119552600	Weak transcription	HepG2	liver
5	chr11:119536000-119544000	Weak transcription	Fetal Intestine Large	intestine
6	chr11:119536400-119544000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:119537600-119544200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:119537800-119547000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:119541000-119544000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr11:119541000-119544200	Enhancers	Brain Substantia Nigra	brain
11	chr11:119541200-119544800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:119541600-119544000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:119541600-119544200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:119541600-119544400	Enhancers	Brain Anterior Caudate	brain
15	chr11:119541600-119544800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr11:119541800-119544000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:119541800-119544000	Enhancers	Brain Angular Gyrus	brain
18	chr11:119541800-119546000	Genic enhancers	Esophagus	oesophagus
19	chr11:119541800-119548600	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr11:119541800-119548600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:119541800-119548800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:119541800-119549000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:119542000-119544200	Genic enhancers	HMEC	breast
24	chr11:119542000-119544400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:119542000-119544800	Genic enhancers	Fetal Intestine Small	intestine
26	chr11:119542000-119545400	Enhancers	Fetal Thymus	thymus
27	chr11:119542200-119546200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:119542200-119547800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:119542200-119548600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:119542200-119551400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:119542400-119544400	Genic enhancers	Pancreas	Pancrea
32	chr11:119542400-119544400	Enhancers	Spleen	Spleen
33	chr11:119542400-119544600	Enhancers	Primary B cells from cord blood	blood
34	chr11:119542400-119544800	Genic enhancers	Fetal Stomach	stomach
35	chr11:119542400-119545000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:119542400-119545600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:119542400-119547200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:119542600-119544200	Weak transcription	Aorta	Aorta
39	chr11:119542600-119544200	Enhancers	GM12878-XiMat	blood
40	chr11:119542600-119544400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:119542600-119544600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:119542600-119544600	Weak transcription	Fetal Brain Female	brain
43	chr11:119542600-119545800	Genic enhancers	Duodenum Mucosa	Duodenum
44	chr11:119542600-119547000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:119542600-119548400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:119542800-119544000	Enhancers	Brain Hippocampus Middle	brain
47	chr11:119542800-119544200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr11:119542800-119544400	Enhancers	Fetal Lung	lung
49	chr11:119542800-119544600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr11:119542800-119544800	Genic enhancers	Placenta	Placenta

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