Variant report

Variant	nsv971213
Chromosome Location	chr7:3422721-3431184
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3427962..3429690-chr7:3438000..3440152,2	K562	blood:
2	chr7:3421160..3422732-chr7:3429225..3430935,2	MCF-7	breast:
3	chr7:3425023..3426589-chr7:3427708..3429646,2	MCF-7	breast:
4	chr7:3421160..3422732-chr7:3429225..3430935,2	MCF-7	breast:
5	chr7:3425641..3430182-chr7:3430225..3435357,4	MCF-7	breast:
6	chr7:3424678..3427459-chr7:3437708..3440654,2	MCF-7	breast:
7	chr7:3419417..3422397-chr7:3422583..3424637,2	K562	blood:
8	chr7:3425641..3430182-chr7:3430225..3435357,4	MCF-7	breast:
9	chr7:3425023..3426589-chr7:3427708..3429646,2	MCF-7	breast:

No data

Extended variants
information (count: 486 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77695677	chr7:3422725-3422726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571872730	chr7:3422791-3422792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193233494	chr7:3422819-3422820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112489362	chr7:3422881-3422882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567625854	chr7:3422888-3422889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536354448	chr7:3422894-3422895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150097708	chr7:3422901-3422902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185698886	chr7:3422912-3422913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538671178	chr7:3422913-3422914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376192457	chr7:3422938-3422939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59986956	chr7:3422975-3422976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs145450466	chr7:3422983-3422984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541287343	chr7:3422991-3422992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73050568	chr7:3423012-3423013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7458366	chr7:3423040-3423041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190214085	chr7:3423068-3423069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543211895	chr7:3423081-3423082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181762396	chr7:3423091-3423092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531680444	chr7:3423101-3423102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545091048	chr7:3423147-3423148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74697004	chr7:3423152-3423153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527983714	chr7:3423158-3423159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs939914	chr7:3423160-3423161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567955131	chr7:3423207-3423208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370842432	chr7:3423292-3423293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530357926	chr7:3423320-3423321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550381196	chr7:3423353-3423354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538445866	chr7:3423395-3423396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147008013	chr7:3423504-3423505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558284063	chr7:3423509-3423510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565631919	chr7:3423517-3423518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534617970	chr7:3423532-3423533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116215296	chr7:3423544-3423545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574385379	chr7:3423550-3423551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374328927	chr7:3423576-3423577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185507817	chr7:3423585-3423586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117044366	chr7:3423618-3423619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188704577	chr7:3423619-3423620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180723226	chr7:3423659-3423660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556437205	chr7:3423698-3423699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565137208	chr7:3423707-3423708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2177167	chr7:3423727-3423728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs2340847	chr7:3423740-3423741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs77693834	chr7:3423748-3423749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78098935	chr7:3423770-3423771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556644212	chr7:3423829-3423830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140775126	chr7:3423833-3423834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117574229	chr7:3423868-3423869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186165939	chr7:3423886-3423887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190885325	chr7:3423888-3423889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3408800-3426200	Weak transcription	Aorta	Aorta
2	chr7:3414600-3424200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:3419200-3433200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:3421200-3424200	Weak transcription	Fetal Brain Male	brain
5	chr7:3421600-3425000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:3421600-3430400	Weak transcription	HepG2	liver
7	chr7:3424200-3426600	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:3424200-3427400	Enhancers	Fetal Brain Male	brain
9	chr7:3425800-3426800	Enhancers	Fetal Lung	lung
10	chr7:3426200-3426800	Enhancers	Fetal Stomach	stomach
11	chr7:3426200-3427000	Enhancers	Aorta	Aorta
12	chr7:3426600-3427600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:3427000-3429000	Weak transcription	Aorta	Aorta
14	chr7:3427600-3427800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:3429000-3429400	ZNF genes & repeats	Aorta	Aorta
16	chr7:3429400-3430200	Weak transcription	Aorta	Aorta
17	chr7:3430200-3430400	Enhancers	Aorta	Aorta
18	chr7:3430400-3430800	Enhancers	HepG2	liver

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