Variant report

Variant	esv3366168
Chromosome Location	chr13:30538255-30538582
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	chr13:30538086..30538804-chr13:30688934..30689691,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532492355	chr13:30538300-30538301	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs552118787	chr13:30538338-30538339	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs182923956	chr13:30538347-30538348	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs7334559	chr13:30538361-30538362	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs146871204	chr13:30538362-30538363	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs139784127	chr13:30538395-30538396	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs7334714	chr13:30538404-30538405	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144391128	chr13:30538434-30538435	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs539572102	chr13:30538457-30538458	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs552979307	chr13:30538458-30538459	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs376027216	chr13:30538477-30538478	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs11838440	chr13:30538487-30538488	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs187553438	chr13:30538508-30538509	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549262952	chr13:30538510-30538511	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs536450893	chr13:30538539-30538540	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30537800-30538600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30537800-30539200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr13:30537800-30539600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr13:30538000-30538400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:30538000-30538400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr13:30538000-30538400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr13:30538000-30539200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr13:30538200-30538400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr13:30538200-30538400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr13:30538200-30538400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr13:30538200-30538400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:30538400-30538600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr13:30538400-30538800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr13:30538400-30538800	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr13:30538400-30538800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr13:30538400-30539000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr13:30538400-30539400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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