Variant report

Variant	esv14431
Chromosome Location	chr12:106532468-106533798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106529953..106533456-chr12:106589507..106592473,3	MCF-7	breast:
2	chr12:106256670..106259118-chr12:106531259..106533128,2	MCF-7	breast:
3	chr12:105878812..105881754-chr12:106532109..106533760,2	MCF-7	breast:
4	chr12:106260796..106262359-chr12:106530487..106533062,2	MCF-7	breast:
5	chr12:105813159..105815019-chr12:106530555..106533790,3	MCF-7	breast:
6	chr12:106531262..106533679-chr12:106543496..106547207,3	MCF-7	breast:
7	chr12:106533049..106533686-chr19:42721299..42721921,2	HCT-116	colon:
8	chr12:106531533..106535020-chr12:106751427..106753733,3	MCF-7	breast:
9	chr12:106532785..106534884-chr12:106750299..106753050,2	MCF-7	breast:
10	chr12:106105066..106107920-chr12:106531148..106533033,2	MCF-7	breast:
11	chr12:105946907..105949767-chr12:106531210..106533511,2	MCF-7	breast:
12	chr12:106492655..106494743-chr12:106531247..106533400,2	MCF-7	breast:
13	chr12:89746855..89748996-chr12:106530986..106533186,2	MCF-7	breast:
14	chr12:106531582..106534564-chr12:106638638..106642825,4	MCF-7	breast:
15	chr12:106530538..106533489-chr21:45720993..45722584,2	MCF-7	breast:
16	chr12:106378534..106380101-chr12:106531671..106533641,2	MCF-7	breast:
17	chr12:106322581..106324128-chr12:106531603..106533720,2	MCF-7	breast:
18	chr12:106417953..106419707-chr12:106531100..106533719,2	MCF-7	breast:
19	chr12:106439470..106441624-chr12:106531881..106533487,2	MCF-7	breast:
20	chr12:106530740..106533315-chr17:57922492..57924667,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160570	chromatin interactions
ENSG00000136026	chromatin interactions
ENSG00000139318	chromatin interactions
ENSG00000013503	chromatin interactions
ENSG00000258355	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552787653	chr12:106532475-106532476	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs368420634	chr12:106532574-106532575	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs572709221	chr12:106532592-106532593	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs546034790	chr12:106532641-106532642	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs545239932	chr12:106532674-106532675	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs558597231	chr12:106532684-106532685	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs543897268	chr12:106532783-106532784	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs560964938	chr12:106532821-106532822	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs529857495	chr12:106532893-106532894	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs12312153	chr12:106532904-106532905	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559940660	chr12:106532920-106532921	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs372368812	chr12:106532924-106532925	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs528718554	chr12:106532956-106532957	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs533259767	chr12:106532974-106532975	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs552016621	chr12:106532975-106532976	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs551638549	chr12:106532977-106532978	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs569882924	chr12:106532983-106532984	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs530696525	chr12:106532985-106532986	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs530912174	chr12:106532995-106532996	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs550744510	chr12:106533078-106533079	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs374083384	chr12:106533133-106533134	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs536305480	chr12:106533212-106533213	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs546690690	chr12:106533246-106533247	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs550252327	chr12:106533327-106533328	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs116127486	chr12:106533348-106533349	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs534205985	chr12:106533394-106533395	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs558797639	chr12:106533395-106533396	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs568142144	chr12:106533401-106533402	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs537842079	chr12:106533463-106533464	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs75833421	chr12:106533465-106533466	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs76846899	chr12:106533469-106533470	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs540303402	chr12:106533489-106533490	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs184348444	chr12:106533496-106533497	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs573370849	chr12:106533503-106533504	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs148811823	chr12:106533518-106533519	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs565569466	chr12:106533611-106533612	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs531149080	chr12:106533679-106533680	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs550869902	chr12:106533737-106533738	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs371860096	chr12:106533738-106533739	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106528600-106534200	Active TSS	Fetal Brain Female	brain
2	chr12:106529000-106532600	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr12:106529200-106534200	Active TSS	Right Ventricle	heart
4	chr12:106529200-106534600	Active TSS	Aorta	Aorta
5	chr12:106529200-106535000	Active TSS	Left Ventricle	heart
6	chr12:106529400-106534000	Active TSS	Ovary	ovary
7	chr12:106529600-106533800	Active TSS	HSMM	muscle
8	chr12:106529600-106535000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:106529800-106533600	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr12:106530000-106534800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:106530000-106534800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:106530200-106532600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
13	chr12:106530200-106533400	Active TSS	Lung	lung
14	chr12:106530400-106534000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:106530400-106534000	Active TSS	HSMMtube	muscle
16	chr12:106530600-106533800	Active TSS	Brain Anterior Caudate	brain
17	chr12:106530600-106533800	Active TSS	Brain Cingulate Gyrus	brain
18	chr12:106530600-106534000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:106530600-106534000	Active TSS	Colon Smooth Muscle	Colon
20	chr12:106530600-106534000	Active TSS	Psoas Muscle	Psoas
21	chr12:106530600-106534400	Active TSS	NHDF-Ad	bronchial
22	chr12:106530600-106534600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr12:106530800-106534000	Active TSS	Brain Hippocampus Middle	brain
24	chr12:106530800-106534200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:106530800-106534200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:106530800-106535600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr12:106531200-106534000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:106531200-106534000	Bivalent/Poised TSS	Thymus	Thymus
29	chr12:106531200-106534000	Active TSS	A549	lung
30	chr12:106531200-106534200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:106531200-106534400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
32	chr12:106531400-106532600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr12:106531400-106532600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:106531400-106533600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:106531400-106533600	Active TSS	Brain Angular Gyrus	brain
36	chr12:106531400-106534400	Active TSS	Gastric	stomach
37	chr12:106531400-106534800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr12:106531600-106532600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr12:106531600-106532600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
40	chr12:106531600-106532600	Bivalent/Poised TSS	Fetal Thymus	thymus
41	chr12:106531600-106533600	Active TSS	NH-A	brain
42	chr12:106531600-106534000	Active TSS	Brain Substantia Nigra	brain
43	chr12:106531600-106534000	Active TSS	Rectal Smooth Muscle	rectum
44	chr12:106531600-106534200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:106531600-106534400	Active TSS	Placenta	Placenta
46	chr12:106531800-106532600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:106531800-106533400	Active TSS	HMEC	breast
48	chr12:106531800-106533600	Active TSS	NHLF	lung
49	chr12:106531800-106533800	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr12:106531800-106533800	Active TSS	HUVEC	blood vessel

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