Variant report

Variant	nsv888632
Chromosome Location	chr7:83958436-83993099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1134 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1134 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs515139	chr7:83958436-83958437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62472594	chr7:83958447-83958448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs137896814	chr7:83958479-83958480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372772972	chr7:83958511-83958512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189836990	chr7:83958537-83958538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs977484	chr7:83958676-83958677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556740951	chr7:83958713-83958714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569033780	chr7:83958730-83958731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4259361	chr7:83958733-83958734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536030084	chr7:83958794-83958795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554456086	chr7:83958805-83958806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572834418	chr7:83958879-83958880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566384886	chr7:83958897-83958898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540135513	chr7:83958999-83959000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73189044	chr7:83959105-83959106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577126769	chr7:83959140-83959141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367758245	chr7:83959160-83959161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544699228	chr7:83959161-83959162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562814286	chr7:83959180-83959181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530333943	chr7:83959201-83959202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75669008	chr7:83959309-83959310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560646126	chr7:83959344-83959345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574750276	chr7:83959347-83959348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6979916	chr7:83959377-83959378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537261358	chr7:83959424-83959425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75879915	chr7:83959430-83959431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571231792	chr7:83959463-83959464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531961926	chr7:83959483-83959484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550670462	chr7:83959492-83959493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568822811	chr7:83959504-83959505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572822597	chr7:83959511-83959512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6955364	chr7:83959512-83959513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559482745	chr7:83959598-83959599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371751317	chr7:83959606-83959607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539860126	chr7:83959647-83959648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533846798	chr7:83959705-83959706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558386166	chr7:83959718-83959719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577190580	chr7:83959723-83959724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367917345	chr7:83959733-83959734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546013011	chr7:83959740-83959741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556507021	chr7:83959745-83959746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs581760	chr7:83959751-83959752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573162056	chr7:83959775-83959776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193196555	chr7:83959795-83959796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560707058	chr7:83959845-83959846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572631466	chr7:83959866-83959867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141672736	chr7:83959878-83959879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542207518	chr7:83959882-83959883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564594019	chr7:83959932-83959933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183895239	chr7:83959962-83959963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83947200-83966800	Weak transcription	NHDF-Ad	bronchial
2	chr7:83960800-83961400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:83961000-83961200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:83961000-83961400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:83961000-83961400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:83961000-83961400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:83961000-83961400	Enhancers	Colon Smooth Muscle	Colon
8	chr7:83961200-83965800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:83961400-83965000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:83961400-83965200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:83961400-83965400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:83961400-83965800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:83964000-83964200	Enhancers	Brain Germinal Matrix	brain
14	chr7:83964200-83966600	Weak transcription	Brain Germinal Matrix	brain
15	chr7:83965000-83967200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:83965200-83965400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:83965200-83965600	Enhancers	GM12878-XiMat	blood
18	chr7:83965200-83967200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:83965400-83965800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:83965400-83966000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:83965400-83966000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:83965400-83966000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:83965400-83967200	Enhancers	Fetal Brain Male	brain
24	chr7:83965400-83967200	Enhancers	Fetal Heart	heart
25	chr7:83965400-83967200	Enhancers	NH-A	brain
26	chr7:83965600-83965800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:83965600-83965800	Enhancers	HSMMtube	muscle
28	chr7:83965600-83966000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:83965600-83966200	Enhancers	Fetal Muscle Leg	muscle
30	chr7:83965600-83966200	Flanking Active TSS	GM12878-XiMat	blood
31	chr7:83965600-83967200	Enhancers	Osteobl	bone
32	chr7:83965600-83967400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:83965800-83966000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:83965800-83966000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr7:83965800-83966600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr7:83965800-83967000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:83965800-83968400	Weak transcription	HSMMtube	muscle
38	chr7:83966000-83966400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:83966000-83967200	Enhancers	Adipose Nuclei	Adipose
40	chr7:83966000-83967200	Enhancers	NHLF	lung
41	chr7:83966200-83966400	Enhancers	GM12878-XiMat	blood
42	chr7:83966200-83966600	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:83966200-83967400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:83966400-83966800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr7:83966400-83967000	Enhancers	Primary B cells from cord blood	blood
46	chr7:83966600-83966800	Enhancers	HSMM	muscle
47	chr7:83966600-83967200	Enhancers	Fetal Muscle Leg	muscle
48	chr7:83966600-83967200	Enhancers	HMEC	breast
49	chr7:83966600-83967400	Enhancers	Brain Germinal Matrix	brain
50	chr7:83966800-83967200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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