Variant report

Variant	nsv981811
Chromosome Location	chr7:84518354-84523215
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	chr7:84509660..84511459-chr7:84521685..84524574,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557595957	chr7:84518418-84518419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146334641	chr7:84518500-84518501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547158697	chr7:84518540-84518541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10234635	chr7:84518557-84518558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577460152	chr7:84518574-84518575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577436943	chr7:84518608-84518609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544617021	chr7:84518676-84518677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556699337	chr7:84518683-84518684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575112420	chr7:84518720-84518721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542465004	chr7:84518741-84518742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185685960	chr7:84518752-84518753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528207634	chr7:84518771-84518772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190207436	chr7:84518772-84518773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17159428	chr7:84518877-84518878	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs111502479	chr7:84518902-84518903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558704721	chr7:84518934-84518935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117244025	chr7:84519039-84519040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193264914	chr7:84519119-84519120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17159429	chr7:84519128-84519129	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376561841	chr7:84519185-84519186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529804113	chr7:84519197-84519198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547989345	chr7:84519219-84519220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573642440	chr7:84519323-84519324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184405169	chr7:84519411-84519412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534080156	chr7:84519413-84519414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139303597	chr7:84519420-84519421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570788697	chr7:84519438-84519439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538506809	chr7:84519457-84519458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189162966	chr7:84519467-84519468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181186372	chr7:84519499-84519500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557918358	chr7:84519510-84519511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28438737	chr7:84519513-84519514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185838451	chr7:84519537-84519538	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84518400-84519600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:84523200-84533400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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