Variant report

Variant	nsv1018037
Chromosome Location	chr7:12048555-12064626
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 338 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2966622	chr7:12048555-12048556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147724884	chr7:12048573-12048574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73294729	chr7:12048586-12048587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554552539	chr7:12048594-12048595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142488990	chr7:12048631-12048632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146566899	chr7:12048658-12048659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184415235	chr7:12048661-12048662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139127688	chr7:12048709-12048710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs36094560	chr7:12048714-12048715	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149362340	chr7:12048745-12048746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566791779	chr7:12048784-12048785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538433833	chr7:12048790-12048791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143643098	chr7:12048802-12048803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374951170	chr7:12048811-12048812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537952266	chr7:12048823-12048824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554095958	chr7:12048827-12048828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533925449	chr7:12048924-12048925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574114583	chr7:12048926-12048927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553569616	chr7:12048956-12048957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576653343	chr7:12048968-12048969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545617208	chr7:12048973-12048974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116123426	chr7:12049030-12049031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2215987	chr7:12049086-12049087	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs189236657	chr7:12049091-12049092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2215986	chr7:12049120-12049121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373612947	chr7:12049124-12049125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182027297	chr7:12049153-12049154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530487279	chr7:12049164-12049165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114139094	chr7:12049169-12049170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540786612	chr7:12049170-12049171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562159733	chr7:12049172-12049173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78062683	chr7:12049174-12049175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562035635	chr7:12049269-12049270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527670091	chr7:12049272-12049273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184300507	chr7:12049288-12049289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111852703	chr7:12049302-12049303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78326496	chr7:12049310-12049311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188778618	chr7:12049323-12049324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148068971	chr7:12049329-12049330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569033846	chr7:12049342-12049343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559276441	chr7:12049350-12049351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141800065	chr7:12049356-12049357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529662814	chr7:12049363-12049364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547905120	chr7:12049399-12049400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528551111	chr7:12055616-12055617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571422098	chr7:12055619-12055620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73676182	chr7:12055754-12055755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs201863263	chr7:12055759-12055760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537044692	chr7:12055779-12055780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182245444	chr7:12055796-12055797	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	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
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12048400-12048600	Enhancers	Fetal Kidney	kidney
2	chr7:12048400-12049000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:12048400-12049200	Enhancers	Small Intestine	intestine
4	chr7:12048800-12049400	Enhancers	Fetal Brain Female	brain
5	chr7:12055600-12057800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:12057800-12059200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:12059200-12059400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:12059400-12059800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:12059600-12060000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:12059800-12062400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:12061000-12061600	Enhancers	Fetal Lung	lung

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