Variant report

Variant	nsv1033675
Chromosome Location	chr7:14146024-14174981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:14167244..14169485-chr7:14169676..14171320,2	K562	blood:
2	chr7:14167244..14169485-chr7:14169676..14171320,2	K562	blood:
3	chr7:14140015..14142063-chr7:14149644..14151263,2	K562	blood:
4	chr7:14137681..14139670-chr7:14144330..14146165,2	K562	blood:

Extended variants
information (count: 506 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17167866	chr7:14146024-14146025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs80347702	chr7:14146033-14146034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566255053	chr7:14146049-14146050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116392301	chr7:14146052-14146053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78903969	chr7:14146079-14146080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571695336	chr7:14146105-14146106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574245407	chr7:14146113-14146114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558831910	chr7:14146121-14146122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559857469	chr7:14146145-14146146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576602563	chr7:14146147-14146148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573849428	chr7:14146181-14146182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200614378	chr7:14146213-14146214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386710571	chr7:14146215-14146216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182420376	chr7:14146216-14146217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573095945	chr7:14146217-14146218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146238722	chr7:14146234-14146235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35889847	chr7:14146265-14146266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186733886	chr7:14146268-14146269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559511374	chr7:14146313-14146314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7790836	chr7:14146320-14146321	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540807836	chr7:14146343-14146344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112155391	chr7:14146387-14146388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560652918	chr7:14146403-14146404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529406753	chr7:14146405-14146406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549208036	chr7:14146434-14146435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79394812	chr7:14146437-14146438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192650267	chr7:14146444-14146445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551738114	chr7:14146480-14146481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571515417	chr7:14146491-14146492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376852329	chr7:14146511-14146512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565282398	chr7:14146516-14146517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17167868	chr7:14146538-14146539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551044172	chr7:14146549-14146550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35957785	chr7:14146612-14146613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567767488	chr7:14146760-14146761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138706147	chr7:14146761-14146762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552937722	chr7:14146766-14146767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531655551	chr7:14146820-14146821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17167869	chr7:14146830-14146831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538523895	chr7:14146847-14146848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10281267	chr7:14146865-14146866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs148936296	chr7:14146920-14146921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529000956	chr7:14146922-14146923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75600026	chr7:14146923-14146924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560642731	chr7:14146943-14146944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75679361	chr7:14147004-14147005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143666883	chr7:14147010-14147011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559733438	chr7:14147016-14147017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528697606	chr7:14147044-14147045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184040411	chr7:14147068-14147069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14144600-14146400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:14145200-14152600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:14145800-14146200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:14156000-14156600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:14156200-14156600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:14162400-14166200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:14162800-14166000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:14163600-14165200	Enhancers	Fetal Brain Male	brain
9	chr7:14164400-14164600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:14164400-14164800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:14164600-14165400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:14164600-14165800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:14165200-14166000	Enhancers	Gastric	stomach
14	chr7:14165400-14166000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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