Variant report

Variant	esv3417126
Chromosome Location	chr7:27302172-27302736
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	chr7:27300808..27304928-chr7:27305483..27308611,3	K562	blood:
2	7:27238414-27242313..7:27302081-27303622	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000243766	chromatin interactions
ENSG00000106031	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111702286	chr7:27302175-27302176	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs189032201	chr7:27302184-27302185	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11296066	chr7:27302232-27302233	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550221646	chr7:27302249-27302250	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs58552577	chr7:27302250-27302251	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112198559	chr7:27302254-27302255	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566352527	chr7:27302286-27302287	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs17428282	chr7:27302301-27302302	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs146434856	chr7:27302319-27302320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs181532380	chr7:27302325-27302326	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186266110	chr7:27302326-27302327	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs551455677	chr7:27302328-27302329	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs17428289	chr7:27302489-27302490	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs571725697	chr7:27302609-27302610	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs528634863	chr7:27302621-27302622	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376581986	chr7:27302667-27302668	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs555398309	chr7:27302697-27302698	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs6975714	chr7:27302709-27302710	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534685340	chr7:27302715-27302716	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs553055164	chr7:27302725-27302726	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs4236324	chr7:27302727-27302728	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27300600-27303000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:27301600-27302200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:27302000-27303200	Weak transcription	HMEC	breast

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