Variant report

Variant	esv3361565
Chromosome Location	chr2:180714406-180714845
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	chr2:180711911..180714659-chr2:180717451..180719062,2	MCF-7	breast:
2	chr2:180704558..180706677-chr2:180713016..180714537,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570757541	chr2:180714424-180714425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150846946	chr2:180714439-180714440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6709255	chr2:180714465-180714466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374070557	chr2:180714469-180714470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111731482	chr2:180714485-180714486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558781015	chr2:180714497-180714498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192011609	chr2:180714502-180714503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544562259	chr2:180714553-180714554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559076280	chr2:180714554-180714555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116136929	chr2:180714567-180714568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574854552	chr2:180714569-180714570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139319971	chr2:180714641-180714642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76959187	chr2:180714687-180714688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192317	chr2:180714717-180714718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528253438	chr2:180714785-180714786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149613129	chr2:180714794-180714795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185033028	chr2:180714798-180714799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs259813	chr2:180714834-180714835	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180706800-180724800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:180714000-180715200	Weak transcription	Right Atrium	heart
3	chr2:180714800-180715400	Enhancers	Muscle Satellite Cultured Cells	--

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