Variant report

Variant	nsv518740
Chromosome Location	chr7:16045794-16085019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1642 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1642 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556190436	chr7:16047210-16047211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75655883	chr7:16047213-16047214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545310314	chr7:16047215-16047216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564167906	chr7:16047293-16047294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186746049	chr7:16047304-16047305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191658772	chr7:16047318-16047319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184139918	chr7:16047345-16047346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550046497	chr7:16047363-16047364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550298436	chr7:16047365-16047366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564916289	chr7:16047369-16047370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532384655	chr7:16047395-16047396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547655275	chr7:16047448-16047449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566033120	chr7:16047454-16047455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530219911	chr7:16047494-16047495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562698473	chr7:16047549-16047550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536813265	chr7:16047550-16047551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138793408	chr7:16047577-16047578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141373429	chr7:16047636-16047637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537520447	chr7:16047658-16047659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374913008	chr7:16047659-16047660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577678784	chr7:16047681-16047682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550613188	chr7:16047706-16047707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570359769	chr7:16047717-16047718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538661216	chr7:16047719-16047720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189627042	chr7:16047738-16047739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572262771	chr7:16047739-16047740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193023481	chr7:16047754-16047755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185267148	chr7:16047763-16047764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542950864	chr7:16047836-16047837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560924978	chr7:16047848-16047849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111347270	chr7:16047865-16047866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543475080	chr7:16047884-16047885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548381663	chr7:16047891-16047892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565058967	chr7:16047945-16047946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150383178	chr7:16047947-16047948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138077585	chr7:16047956-16047957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112070576	chr7:16047978-16047979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530324334	chr7:16047997-16047998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548891464	chr7:16048004-16048005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548795529	chr7:16048044-16048045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534109052	chr7:16048075-16048076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190500816	chr7:16048086-16048087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146058553	chr7:16048105-16048106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182032068	chr7:16048131-16048132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs800711	chr7:16048144-16048145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs553797098	chr7:16048159-16048160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185233266	chr7:16048191-16048192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532997330	chr7:16050029-16050030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547762439	chr7:16050087-16050088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546603127	chr7:16050105-16050106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	19492091	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16047200-16047800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr7:16047200-16048200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:16050000-16065200	Weak transcription	Osteobl	bone
4	chr7:16053400-16056200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:16054000-16056200	Enhancers	NHDF-Ad	bronchial
6	chr7:16054800-16056400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:16058000-16058200	Enhancers	Aorta	Aorta
8	chr7:16058200-16065400	Weak transcription	Aorta	Aorta
9	chr7:16061000-16061800	Enhancers	Ovary	ovary
10	chr7:16061000-16063200	Enhancers	Fetal Lung	lung
11	chr7:16061200-16062400	Enhancers	Adipose Nuclei	Adipose
12	chr7:16061200-16063400	Enhancers	Colon Smooth Muscle	Colon
13	chr7:16061200-16068800	Enhancers	Rectal Smooth Muscle	rectum
14	chr7:16061400-16061600	Enhancers	Right Atrium	heart
15	chr7:16061400-16064800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:16061600-16061800	Enhancers	Fetal Muscle Leg	muscle
17	chr7:16061800-16066000	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:16061800-16066200	Weak transcription	Right Atrium	heart
19	chr7:16062200-16062600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:16062400-16066800	Weak transcription	Adipose Nuclei	Adipose
21	chr7:16062600-16063000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:16063000-16063200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:16063000-16063600	Enhancers	Fetal Heart	heart
24	chr7:16063200-16063400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr7:16063200-16063400	Enhancers	HSMMtube	muscle
26	chr7:16063200-16065200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:16063200-16065400	Weak transcription	Fetal Lung	lung
28	chr7:16063400-16064200	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:16063400-16064600	Weak transcription	HSMMtube	muscle
30	chr7:16063600-16064600	Weak transcription	Fetal Heart	heart
31	chr7:16064200-16064400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:16064200-16064400	Enhancers	Left Ventricle	heart
33	chr7:16064200-16064400	Enhancers	Psoas Muscle	Psoas
34	chr7:16064200-16064800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:16064200-16068600	Enhancers	Colon Smooth Muscle	Colon
36	chr7:16064400-16065400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:16064400-16065400	Weak transcription	Psoas Muscle	Psoas
38	chr7:16064600-16066800	Enhancers	Fetal Heart	heart
39	chr7:16064600-16069000	Enhancers	HSMMtube	muscle
40	chr7:16064600-16069200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:16064800-16065200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr7:16064800-16066000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:16065000-16067600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:16065000-16068600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr7:16065200-16067400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr7:16065200-16068400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:16065200-16068800	Enhancers	Osteobl	bone
48	chr7:16065200-16069000	Enhancers	NHLF	lung
49	chr7:16065200-16069200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:16065400-16065600	Enhancers	Aorta	Aorta

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