Variant report

Variant	nsv981800
Chromosome Location	chr7:12038760-12045708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113501577	chr7:12044210-12044211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114969019	chr7:12044220-12044221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539047315	chr7:12044227-12044228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556152849	chr7:12044236-12044237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532271606	chr7:12044284-12044285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552161685	chr7:12044293-12044294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568862625	chr7:12044327-12044328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537992232	chr7:12044365-12044366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139037691	chr7:12044388-12044389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184585270	chr7:12044397-12044398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555631928	chr7:12044400-12044401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142956884	chr7:12044407-12044408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554631860	chr7:12044408-12044409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541501849	chr7:12044427-12044428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553827886	chr7:12044434-12044435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564554023	chr7:12044435-12044436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78633121	chr7:12044500-12044501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10243371	chr7:12044541-12044542	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs543447726	chr7:12044544-12044545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78134849	chr7:12044570-12044571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531466737	chr7:12044580-12044581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542113087	chr7:12044589-12044590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17165489	chr7:12044598-12044599	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs527500569	chr7:12044605-12044606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187111415	chr7:12044653-12044654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191881520	chr7:12044669-12044670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533088393	chr7:12044703-12044704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554046148	chr7:12044814-12044815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150808112	chr7:12044902-12044903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183774920	chr7:12044903-12044904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535745476	chr7:12044908-12044909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577484606	chr7:12044942-12044943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557958454	chr7:12044953-12044954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372656277	chr7:12044954-12044955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56178992	chr7:12044972-12044973	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113703458	chr7:12045068-12045069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2215988	chr7:12045069-12045070	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1120451	chr7:12045074-12045075	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552845351	chr7:12045085-12045086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543909828	chr7:12045105-12045106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375941145	chr7:12045164-12045165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376419390	chr7:12045165-12045166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557029155	chr7:12045214-12045215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2192731	chr7:12045234-12045235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576516745	chr7:12045261-12045262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561634095	chr7:12045281-12045282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs59914810	chr7:12045293-12045294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540824158	chr7:12045299-12045300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372290200	chr7:12045324-12045325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56768903	chr7:12045339-12045340	Weak transcription	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12044200-12045000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr7:12044200-12045000	Enhancers	Duodenum Mucosa	Duodenum
3	chr7:12044400-12045000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:12044800-12045200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr7:12045000-12048400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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