Variant report

Variant	esv3348999
Chromosome Location	chr12:105876123-105876585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105874327..105876569-chr12:105894873..105897769,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137939248	chr12:105876157-105876158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10778407	chr12:105876166-105876167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs542520219	chr12:105876167-105876168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556031016	chr12:105876174-105876175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540934343	chr12:105876177-105876178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559261210	chr12:105876210-105876211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541142053	chr12:105876223-105876224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78277354	chr12:105876322-105876323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577854044	chr12:105876354-105876355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138609739	chr12:105876374-105876375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543094169	chr12:105876391-105876392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563294165	chr12:105876435-105876436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149292028	chr12:105876484-105876485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375425711	chr12:105876512-105876513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374597959	chr12:105876516-105876517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192789524	chr12:105876522-105876523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7311649	chr12:105876549-105876550	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105863200-105884200	Weak transcription	Right Atrium	heart
2	chr12:105869000-105878800	Weak transcription	Placenta	Placenta
3	chr12:105869200-105878800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:105874400-105877400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:105874400-105877800	Enhancers	HUVEC	blood vessel
6	chr12:105874400-105878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:105874400-105878800	Weak transcription	NH-A	brain
8	chr12:105874400-105879000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:105874400-105879000	Weak transcription	A549	lung
10	chr12:105874400-105893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:105874600-105877800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:105874600-105879200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:105874800-105878800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:105875000-105879200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:105875200-105877200	Enhancers	HSMMtube	muscle
16	chr12:105875400-105878000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:105875400-105879000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:105875400-105904400	Weak transcription	Aorta	Aorta
19	chr12:105875600-105877600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:105875800-105876200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:105875800-105876200	Enhancers	HSMM	muscle
22	chr12:105876000-105877600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:105876200-105876400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:105876200-105876400	Enhancers	Fetal Muscle Leg	muscle
25	chr12:105876200-105877600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:105876200-105879000	Weak transcription	HSMM	muscle
27	chr12:105876400-105879600	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:105876400-105880400	Weak transcription	Fetal Kidney	kidney
29	chr12:105876400-105881800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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