Variant report

Variant	nsv606293
Chromosome Location	chr7:15258456-15265037
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	chr7:15262308..15264487-chr7:15270699..15272942,2	K562	blood:
2	chr7:15253710..15255246-chr7:15258463..15260182,2	K562	blood:

Extended variants
information (count: 274 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6977610	chr7:15258456-15258457	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576048119	chr7:15258491-15258492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544929355	chr7:15258499-15258500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555254899	chr7:15258520-15258521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186557476	chr7:15258532-15258533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540788220	chr7:15258558-15258559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386710654	chr7:15258560-15258561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6977651	chr7:15258561-15258562	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545927235	chr7:15258568-15258569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199532058	chr7:15258661-15258662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562535649	chr7:15258665-15258666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373869828	chr7:15258693-15258694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191189309	chr7:15258694-15258695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548099361	chr7:15258707-15258708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567978417	chr7:15258742-15258743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527524811	chr7:15258747-15258748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547544250	chr7:15258771-15258772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183741783	chr7:15258812-15258813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113758501	chr7:15258820-15258821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188506737	chr7:15258927-15258928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575451564	chr7:15258982-15258983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556252941	chr7:15258988-15258989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373681391	chr7:15259023-15259024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569670587	chr7:15259088-15259089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146760556	chr7:15259089-15259090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568542336	chr7:15259119-15259120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7810617	chr7:15259130-15259131	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs575061916	chr7:15259131-15259132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140372462	chr7:15259135-15259136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542481608	chr7:15259177-15259178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4342487	chr7:15259183-15259184	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76110939	chr7:15259231-15259232	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546289671	chr7:15259249-15259250	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185012828	chr7:15259256-15259257	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576042383	chr7:15259257-15259258	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541804118	chr7:15259286-15259287	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190305055	chr7:15259375-15259376	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527578619	chr7:15259389-15259390	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547316497	chr7:15259420-15259421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564315949	chr7:15259428-15259429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532936493	chr7:15259434-15259435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549922959	chr7:15259449-15259450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10267632	chr7:15259451-15259452	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535477012	chr7:15259467-15259468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548978554	chr7:15259496-15259497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62448951	chr7:15259551-15259552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181990671	chr7:15259580-15259581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554130642	chr7:15259581-15259582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114582960	chr7:15259583-15259584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186373316	chr7:15259592-15259593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15249400-15260000	Weak transcription	Psoas Muscle	Psoas
2	chr7:15253600-15264800	Weak transcription	Liver	Liver
3	chr7:15255800-15260200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:15256600-15260200	Enhancers	Primary hematopoietic stem cells	blood
5	chr7:15256600-15261200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:15258000-15258800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:15258200-15259200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:15258200-15260000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr7:15258800-15259800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:15259200-15259400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:15259200-15260200	Enhancers	HUVEC	blood vessel
12	chr7:15259400-15259600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:15259600-15259800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:15259800-15261200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:15260000-15260200	Enhancers	Psoas Muscle	Psoas
16	chr7:15260200-15260600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:15260200-15260600	Weak transcription	HUVEC	blood vessel
18	chr7:15260600-15261000	Enhancers	HUVEC	blood vessel
19	chr7:15260600-15261200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr7:15260800-15261200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:15264800-15266000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:15264800-15267200	Enhancers	Liver	Liver

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