Variant report

Variant	rs55806292
Chromosome Location	chr12:64589187-64589188
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64586725..64590184-chr12:64613971..64617345,3	MCF-7	breast:
2	chr12:64234749..64237107-chr12:64586923..64589437,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174206	Chromatin interaction
ENSG00000243024	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56691393	1.00[EUR][1000 genomes]
rs58914823	1.00[EUR][1000 genomes]
rs6581532	1.00[EUR][1000 genomes]
rs74097931	1.00[EUR][1000 genomes]
rs74097945	1.00[EUR][1000 genomes]
rs74097962	1.00[EUR][1000 genomes]
rs74097963	1.00[EUR][1000 genomes]
rs74097971	1.00[EUR][1000 genomes]
rs74100209	1.00[EUR][1000 genomes]
rs74100222	1.00[EUR][1000 genomes]
rs7968227	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr12:64574600-64597000	Weak transcription	Esophagus	oesophagus
2	chr12:64575000-64615200	Weak transcription	Psoas Muscle	Psoas
3	chr12:64575200-64597000	Weak transcription	Aorta	Aorta
4	chr12:64575400-64590400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:64575600-64607600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:64575600-64615000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:64575800-64615200	Weak transcription	Fetal Stomach	stomach
8	chr12:64576000-64597200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:64576000-64615000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:64576200-64589600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:64581200-64597000	Weak transcription	HSMMtube	muscle
12	chr12:64581400-64614600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:64581800-64615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:64582600-64614600	Weak transcription	Hela-S3	cervix
15	chr12:64582600-64614600	Weak transcription	NHDF-Ad	bronchial
16	chr12:64583200-64589400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:64583200-64615400	Weak transcription	Placenta	Placenta
18	chr12:64584800-64615200	Weak transcription	Thymus	Thymus
19	chr12:64586000-64611800	Weak transcription	Small Intestine	intestine
20	chr12:64586200-64589200	Strong transcription	Primary B cells from cord blood	blood
21	chr12:64586200-64589200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr12:64586200-64597800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:64586200-64615200	Weak transcription	Right Ventricle	heart
24	chr12:64586400-64599800	Weak transcription	Stomach Mucosa	stomach
25	chr12:64586800-64589200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:64586800-64589200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:64586800-64589200	Strong transcription	Liver	Liver
28	chr12:64586800-64589400	Weak transcription	Colonic Mucosa	Colon
29	chr12:64586800-64604200	Weak transcription	Ovary	ovary
30	chr12:64587000-64589200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:64587200-64589200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:64587400-64589200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:64587400-64589400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:64587400-64609600	Weak transcription	K562	blood
35	chr12:64587800-64589200	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:64587800-64589200	Strong transcription	Dnd41	blood
37	chr12:64588000-64589200	Enhancers	Osteobl	bone
38	chr12:64588000-64595600	Weak transcription	Brain Substantia Nigra	brain
39	chr12:64588000-64596400	Weak transcription	Brain Anterior Caudate	brain
40	chr12:64588000-64600800	Weak transcription	Lung	lung
41	chr12:64588200-64589200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:64588200-64597000	Weak transcription	NHEK	skin
43	chr12:64588200-64613000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:64588400-64589200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:64588400-64596400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:64588400-64597000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:64588400-64597000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:64588400-64597000	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:64588400-64597000	Weak transcription	Left Ventricle	heart
50	chr12:64588400-64597000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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