Variant report

Variant	nsv933957
Chromosome Location	chr7:87092191-87102082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 390 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534390925	chr7:87092212-87092213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs8187789	chr7:87092213-87092214	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs372685632	chr7:87092220-87092221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376926391	chr7:87092221-87092222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202127191	chr7:87092227-87092228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201944321	chr7:87092230-87092231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115043985	chr7:87092298-87092299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536485625	chr7:87092305-87092306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577958705	chr7:87092327-87092328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113446393	chr7:87092336-87092337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373021549	chr7:87092344-87092345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111499809	chr7:87092363-87092364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4148813	chr7:87092376-87092377	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs557442670	chr7:87092386-87092387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573121802	chr7:87092420-87092421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186017181	chr7:87092459-87092460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2373592	chr7:87092500-87092501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564545873	chr7:87092537-87092538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17149674	chr7:87092538-87092539	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545053091	chr7:87092548-87092549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563853286	chr7:87092560-87092561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369969670	chr7:87092562-87092563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561701141	chr7:87092563-87092564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566304834	chr7:87092566-87092567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149947856	chr7:87092585-87092586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56747933	chr7:87092587-87092588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543232021	chr7:87092720-87092721	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144904065	chr7:87092837-87092838	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17149677	chr7:87092842-87092843	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs149040345	chr7:87092858-87092859	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571212146	chr7:87092888-87092889	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555125746	chr7:87092943-87092944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190388254	chr7:87092945-87092946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540912684	chr7:87092957-87092958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568966309	chr7:87092978-87092979	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371072816	chr7:87093016-87093017	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147808248	chr7:87093040-87093041	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs45469297	chr7:87093064-87093065	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554724014	chr7:87093112-87093113	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs45491897	chr7:87093121-87093122	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146782601	chr7:87093128-87093129	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139210366	chr7:87093140-87093141	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558431691	chr7:87093195-87093196	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577611995	chr7:87093234-87093235	Enhancers Strong transcription Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs988448	chr7:87093247-87093248	Enhancers Strong transcription Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs377365516	chr7:87093309-87093310	Enhancers Strong transcription Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557161474	chr7:87093311-87093312	Enhancers Strong transcription Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34519968	chr7:87093371-87093372	Enhancers Strong transcription Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373547992	chr7:87093411-87093412	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs140624937	chr7:87093422-87093423	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	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
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87024800-87093200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:87075600-87094800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr7:87084400-87094000	Strong transcription	Primary B cells from cord blood	blood
4	chr7:87086200-87094200	Weak transcription	Fetal Heart	heart
5	chr7:87086400-87092600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:87086400-87092800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:87088000-87093000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:87088800-87093200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:87089400-87092600	Weak transcription	HepG2	liver
10	chr7:87092000-87092800	Weak transcription	Liver	Liver
11	chr7:87092600-87093400	Enhancers	HepG2	liver
12	chr7:87092600-87094800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr7:87092800-87093200	Enhancers	Liver	Liver
14	chr7:87092800-87094800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr7:87093000-87093400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:87093000-87094200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr7:87093000-87094400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:87093000-87095000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:87093000-87095000	Enhancers	Psoas Muscle	Psoas
20	chr7:87093200-87093400	Flanking Active TSS	Liver	Liver
21	chr7:87093200-87093400	Weak transcription	Left Ventricle	heart
22	chr7:87093200-87093600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:87093200-87093600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:87093200-87094200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:87093400-87093600	Enhancers	Liver	Liver
26	chr7:87093400-87093600	Enhancers	Left Ventricle	heart
27	chr7:87093400-87093800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:87093400-87093800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr7:87093400-87094000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:87093400-87094000	Flanking Active TSS	HepG2	liver
31	chr7:87093400-87094200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:87093400-87094200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:87093400-87094200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr7:87093600-87093800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:87093600-87093800	Flanking Active TSS	Liver	Liver
36	chr7:87093600-87094200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr7:87093600-87094400	Weak transcription	Left Ventricle	heart
38	chr7:87093600-87102400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:87093800-87094000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:87093800-87094200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr7:87093800-87094200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:87093800-87094200	Enhancers	Liver	Liver
43	chr7:87093800-87094200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr7:87093800-87094200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:87094000-87094200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:87094000-87094200	Active TSS	HepG2	liver
47	chr7:87094000-87094800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:87094000-87101000	Weak transcription	Primary B cells from cord blood	blood
49	chr7:87094200-87094400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
50	chr7:87094200-87094400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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