Variant report

Variant	rs2012019
Chromosome Location	chr11:45678820-45678821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45677224..45679884-chr11:45774991..45777658,2	MCF-7	breast:
2	chr11:45673604..45675879-chr11:45677397..45678906,2	K562	blood:
3	chr11:45678783..45681662-chr11:45685006..45688205,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175264	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1026078	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10769158	0.89[EUR][1000 genomes]
rs10769159	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11603055	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12420703	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4148895	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4148899	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4148901	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs737244	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs895733	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897311	chr11:45663568-45691118	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv897312	chr11:45663568-45699134	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv897313	chr11:45670395-45699134	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv554197	chr11:45673014-45679212	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv554198	chr11:45674266-45684117	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45665600-45680000	Weak transcription	Gastric	stomach
2	chr11:45670000-45680200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:45674200-45679800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:45674600-45679800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:45675600-45679800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:45676800-45680000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:45677000-45679800	Weak transcription	Osteobl	bone
8	chr11:45677000-45680000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:45677200-45679800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:45677200-45679800	Weak transcription	NH-A	brain
11	chr11:45677200-45680000	Weak transcription	Brain Anterior Caudate	brain
12	chr11:45677400-45679000	Weak transcription	Dnd41	blood
13	chr11:45677400-45679200	Weak transcription	Right Ventricle	heart
14	chr11:45677400-45679200	Weak transcription	Spleen	Spleen
15	chr11:45677400-45679400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:45677400-45679400	Weak transcription	Brain Substantia Nigra	brain
17	chr11:45677400-45679400	Weak transcription	Left Ventricle	heart
18	chr11:45677400-45679600	Weak transcription	Ovary	ovary
19	chr11:45677400-45679800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:45677400-45679800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:45677400-45679800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:45677400-45680000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:45677400-45680000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:45677400-45680000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:45677400-45680000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:45677600-45680200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:45677600-45680400	Weak transcription	Fetal Brain Female	brain
28	chr11:45677800-45679200	Weak transcription	Fetal Brain Male	brain
29	chr11:45677800-45679600	Weak transcription	Brain Angular Gyrus	brain
30	chr11:45677800-45679600	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:45677800-45680600	Weak transcription	Brain Germinal Matrix	brain
32	chr11:45678200-45680000	Weak transcription	Lung	lung
33	chr11:45678200-45684200	Enhancers	HUVEC	blood vessel
34	chr11:45678400-45685200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:45678600-45679000	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:45678600-45679600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:45678600-45680000	Enhancers	Brain Cingulate Gyrus	brain
38	chr11:45678600-45680400	Enhancers	Fetal Muscle Trunk	muscle
39	chr11:45678600-45683600	Enhancers	Brain Inferior Temporal Lobe	brain

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