Variant report

Variant	rs544081790
Chromosome Location	chr12:12665680-12665681
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12651288..12653412-chr12:12663902..12666446,2	MCF-7	breast:
2	chr12:12664441..12668310-chr12:12713996..12715655,3	MCF-7	breast:
3	chr12:12663586..12666811-chr12:12669278..12673958,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv523366	chr12:12665246-12679124	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
2	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
3	chr12:12639400-12679600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:12641600-12686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:12653800-12669000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:12654400-12667200	Weak transcription	Primary T cells from cord blood	blood
7	chr12:12656000-12666400	Weak transcription	Spleen	Spleen
8	chr12:12656800-12670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:12659000-12667000	Weak transcription	Fetal Thymus	thymus
10	chr12:12659000-12669200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:12659600-12665800	Enhancers	Brain Cingulate Gyrus	brain
12	chr12:12659800-12667800	Enhancers	Brain Hippocampus Middle	brain
13	chr12:12659800-12669000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:12659800-12669800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:12659800-12670800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:12659800-12674200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:12659800-12678600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:12660000-12668600	Enhancers	Brain Substantia Nigra	brain
19	chr12:12660000-12670200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:12660000-12681800	Weak transcription	Fetal Kidney	kidney
21	chr12:12660200-12670000	Weak transcription	Fetal Lung	lung
22	chr12:12660400-12666000	Weak transcription	Placenta	Placenta
23	chr12:12660400-12666400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:12660400-12666400	Weak transcription	Aorta	Aorta
25	chr12:12660400-12667000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:12660400-12669600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:12660400-12670000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:12660400-12670000	Weak transcription	HUVEC	blood vessel
29	chr12:12660400-12670600	Weak transcription	Fetal Stomach	stomach
30	chr12:12660400-12672200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:12660400-12672400	Weak transcription	Right Ventricle	heart
32	chr12:12660400-12672600	Weak transcription	Esophagus	oesophagus
33	chr12:12660400-12672800	Weak transcription	K562	blood
34	chr12:12660400-12686200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:12660600-12667200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:12660800-12665800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:12660800-12667200	Weak transcription	Right Atrium	heart
38	chr12:12660800-12670800	Weak transcription	Left Ventricle	heart
39	chr12:12660800-12672400	Weak transcription	Ovary	ovary
40	chr12:12660800-12676600	Weak transcription	Pancreas	Pancrea
41	chr12:12660800-12679800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:12661200-12665800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:12661800-12669200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:12662000-12665800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:12662000-12668200	Strong transcription	HepG2	liver
46	chr12:12662000-12668600	Enhancers	Brain Anterior Caudate	brain
47	chr12:12662200-12669000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:12662200-12669800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:12662200-12672400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr12:12662400-12669200	Weak transcription	Adipose Nuclei	Adipose

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