Variant report

Variant	nsv470122
Chromosome Location	chr7:15121951-15140689
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 404 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4598156	chr7:15121951-15121952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376745143	chr7:15121985-15121986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191114154	chr7:15122022-15122023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556872225	chr7:15122034-15122035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567214206	chr7:15122048-15122049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200089782	chr7:15122085-15122086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531158066	chr7:15122086-15122087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536061248	chr7:15122093-15122094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13225635	chr7:15122112-15122113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537557402	chr7:15122158-15122159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78662275	chr7:15122188-15122189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114978552	chr7:15122189-15122190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62450379	chr7:15122417-15122418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559865385	chr7:15122437-15122438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528601143	chr7:15122449-15122450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534831054	chr7:15122453-15122454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534101157	chr7:15122454-15122455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551881276	chr7:15122472-15122473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116857091	chr7:15122505-15122506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117332006	chr7:15122506-15122507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114665270	chr7:15122508-15122509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74327080	chr7:15122515-15122516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186745556	chr7:15122524-15122525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114142959	chr7:15122536-15122537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546499426	chr7:15122551-15122552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566685943	chr7:15122556-15122557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115024846	chr7:15122566-15122567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373825208	chr7:15122591-15122592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147668242	chr7:15122597-15122598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560032422	chr7:15124030-15124031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142011349	chr7:15124070-15124071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150705739	chr7:15124080-15124081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35173114	chr7:15124084-15124085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115353055	chr7:15124113-15124114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558802980	chr7:15124133-15124134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373680741	chr7:15124138-15124139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544388935	chr7:15124147-15124148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73287332	chr7:15124161-15124162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532393656	chr7:15124173-15124174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185035402	chr7:15124180-15124181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368249544	chr7:15124197-15124198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73063212	chr7:15124402-15124403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs567772343	chr7:15124422-15124423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139011961	chr7:15124448-15124449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569202252	chr7:15124485-15124486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538051598	chr7:15124506-15124507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73287334	chr7:15124508-15124509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192102216	chr7:15124518-15124519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184594534	chr7:15124521-15124522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189382206	chr7:15124579-15124580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Glioblastoma multiforme	18628472	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15121000-15122200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:15122400-15122600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:15124000-15124200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:15124400-15125400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:15124600-15125000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:15124600-15125400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:15124600-15127400	Enhancers	Brain Germinal Matrix	brain
8	chr7:15124600-15127800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:15124600-15127800	Enhancers	NHDF-Ad	bronchial
10	chr7:15125200-15125600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:15125400-15125800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:15125400-15126600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:15125600-15126000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:15125800-15127800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:15126000-15126200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:15126200-15127200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:15126200-15127600	Enhancers	HUVEC	blood vessel
18	chr7:15126600-15127000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:15127000-15127400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:15127000-15127800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:15127200-15127600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:15136600-15136800	Active TSS	HSMM	muscle
23	chr7:15136800-15137000	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr7:15136800-15137000	Flanking Active TSS	HSMM	muscle
25	chr7:15137000-15144800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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