Variant report

Variant	esv14916
Chromosome Location	chr7:21830214-21830716
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	chr11:65272648..65273620-chr7:21830510..21831030,2	Hela-S3	cervix:

Extended variants
information (count: 27 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539576927	chr7:21830216-21830217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144136499	chr7:21830223-21830224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28611316	chr7:21830243-21830244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542110042	chr7:21830251-21830252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148677392	chr7:21830259-21830260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28376389	chr7:21830260-21830261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560145389	chr7:21830265-21830266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544815340	chr7:21830330-21830331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564701272	chr7:21830332-21830333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76286547	chr7:21830342-21830343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552342048	chr7:21830383-21830384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146714558	chr7:21830397-21830398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80299290	chr7:21830406-21830407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534572433	chr7:21830415-21830416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115815580	chr7:21830416-21830417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568363935	chr7:21830420-21830421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536973506	chr7:21830430-21830431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546597789	chr7:21830478-21830479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12164106	chr7:21830508-21830509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551524915	chr7:21830559-21830560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539541153	chr7:21830598-21830599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10230885	chr7:21830630-21830631	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10276109	chr7:21830640-21830641	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535860399	chr7:21830641-21830642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555758174	chr7:21830687-21830688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76698211	chr7:21830688-21830689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10230994	chr7:21830706-21830707	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	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
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21826200-21830600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:21826800-21834000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:21830600-21830800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:21830600-21831000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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