Variant report

Variant	esv3348252
Chromosome Location	chr12:120693229-120693637
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120553795..120555970-chr12:120692642..120694541,2	MCF-7	breast:
2	chr12:120692902..120700386-chr12:120700764..120704596,11	K562	blood:
3	chr12:120692750..120694251-chr12:120725476..120727142,2	K562	blood:
4	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:
5	chr12:120637449..120640321-chr12:120692742..120694999,3	K562	blood:

Variant related genes	Relation type
ENSG00000111737	chromatin interactions
ENSG00000255857	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000089159	chromatin interactions
ENSG00000200795	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529153531	chr12:120693267-120693268	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs548911679	chr12:120693287-120693288	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs1182859	chr12:120693288-120693289	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs538073065	chr12:120693298-120693299	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs560770639	chr12:120693305-120693306	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs182292567	chr12:120693314-120693315	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs571336606	chr12:120693320-120693321	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs533515128	chr12:120693421-120693422	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs553807554	chr12:120693422-120693423	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs573727850	chr12:120693503-120693504	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs536149667	chr12:120693623-120693624	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Autism	20841430	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
2	chr12:120683200-120694800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:120683200-120695200	Weak transcription	Fetal Brain Male	brain
4	chr12:120686000-120700200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:120686600-120695000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:120688000-120694000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:120688000-120694000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:120688000-120694200	Weak transcription	Brain Angular Gyrus	brain
9	chr12:120688000-120694200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:120688000-120695200	Weak transcription	Gastric	stomach
11	chr12:120688200-120694800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:120688200-120695000	Weak transcription	Liver	Liver
13	chr12:120688400-120694000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:120688400-120694200	Weak transcription	Pancreas	Pancrea
15	chr12:120688400-120694400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:120688400-120694800	Weak transcription	Esophagus	oesophagus
17	chr12:120688600-120694000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:120688600-120694000	Weak transcription	Brain Substantia Nigra	brain
19	chr12:120688600-120694200	Weak transcription	Fetal Heart	heart
20	chr12:120688600-120694200	Weak transcription	Stomach Mucosa	stomach
21	chr12:120688600-120700200	Weak transcription	Fetal Kidney	kidney
22	chr12:120688800-120694000	Weak transcription	Brain Anterior Caudate	brain
23	chr12:120688800-120694000	Weak transcription	Right Ventricle	heart
24	chr12:120688800-120694200	Weak transcription	HepG2	liver
25	chr12:120689600-120693400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr12:120690000-120693600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:120690200-120694000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:120690200-120694000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:120690200-120694000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:120690400-120694000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:120690400-120694000	Weak transcription	K562	blood
32	chr12:120690400-120694800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:120690400-120695000	Weak transcription	Small Intestine	intestine
34	chr12:120690400-120695200	Weak transcription	HSMMtube	muscle
35	chr12:120690400-120697800	Weak transcription	Colonic Mucosa	Colon
36	chr12:120690400-120700400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:120690600-120694000	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:120690600-120694000	Weak transcription	Lung	lung
39	chr12:120690600-120694000	Weak transcription	Right Atrium	heart
40	chr12:120690600-120694200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:120690600-120694400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:120690600-120694800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:120690600-120694800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:120690600-120694800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:120690600-120695200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:120690800-120694000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:120691000-120695200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:120691200-120694200	Strong transcription	Fetal Intestine Small	intestine
49	chr12:120691200-120694200	Weak transcription	Spleen	Spleen
50	chr12:120691400-120694200	Weak transcription	Psoas Muscle	Psoas

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