Variant report

Variant	esv17587
Chromosome Location	chr7:27412567-27413053
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27396768..27399494-chr7:27410784..27413777,2	MCF-7	breast:
2	chr7:27411520..27413922-chr7:27416593..27418466,2	MCF-7	breast:
3	chr7:27406760..27408471-chr7:27412393..27414390,2	MCF-7	breast:
4	chr7:27411422..27413015-chr7:27419474..27421676,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 76 )

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	rs572141677	chr7:27412599-27412600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28398505	chr7:27412606-27412607	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs11563970	chr7:27412615-27412616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564355084	chr7:27412694-27412695	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs576397410	chr7:27412699-27412700	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs142669500	chr7:27412771-27412772	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs562013116	chr7:27412796-27412797	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs2189037	chr7:27412812-27412813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs547833851	chr7:27412829-27412830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28357228	chr7:27412956-27412957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559575725	chr7:27412978-27412979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27404800-27415000	Weak transcription	Right Atrium	heart
2	chr7:27411400-27412600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr7:27411600-27412800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:27411600-27413000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:27411800-27412600	Enhancers	NHDF-Ad	bronchial
6	chr7:27411800-27412600	Enhancers	Osteobl	bone
7	chr7:27411800-27412800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:27411800-27412800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:27411800-27412800	Enhancers	K562	blood
10	chr7:27411800-27413000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:27412000-27412600	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:27412000-27412600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:27412000-27412600	Enhancers	HUVEC	blood vessel
14	chr7:27412200-27412600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:27412200-27412600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr7:27412200-27412600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:27412200-27412800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:27412200-27415000	Weak transcription	A549	lung
19	chr7:27412400-27412600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:27412400-27412600	Enhancers	Pancreas	Pancrea
21	chr7:27412400-27412600	Enhancers	Hela-S3	cervix
22	chr7:27412400-27414200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:27412400-27414600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:27412400-27415600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:27412600-27412800	Flanking Active TSS	Hela-S3	cervix
26	chr7:27412600-27414200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:27412600-27414800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:27412600-27416000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:27412600-27416600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:27412600-27416600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:27412800-27413800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:27412800-27414800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:27413000-27414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:27413000-27414200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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