Variant report

Variant	nsv1027592
Chromosome Location	chr7:4289322-4401128
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
2	chr7:4311748..4314192-chr7:4314238..4316719,2	MCF-7	breast:
3	chr7:4306283..4308245-chr7:4322606..4324838,2	MCF-7	breast:
4	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
5	chr7:4285802..4287439-chr7:4291050..4292753,2	MCF-7	breast:
6	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
7	chr7:4302968..4305028-chr7:4309435..4311444,2	MCF-7	breast:
8	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
9	chr7:4309758..4311351-chr7:4312992..4314606,2	K562	blood:
10	chr7:4171607..4173163-chr7:4322084..4324253,2	K562	blood:
11	chr7:4287888..4289875-chr7:4302608..4305550,2	MCF-7	breast:
12	chr7:4302968..4305028-chr7:4309435..4311444,2	MCF-7	breast:
13	chr7:4309076..4311036-chr7:4311322..4313505,2	MCF-7	breast:
14	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
15	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
16	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
17	chr7:4287888..4289875-chr7:4302608..4305550,2	MCF-7	breast:
18	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
19	chr7:4306283..4308245-chr7:4322606..4324838,2	MCF-7	breast:
20	chr7:4309758..4311351-chr7:4312992..4314606,2	K562	blood:
21	chr7:4309076..4311036-chr7:4311322..4313505,2	MCF-7	breast:
22	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
23	chr7:4311748..4314192-chr7:4314238..4316719,2	MCF-7	breast:
24	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
25	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:

No data

Extended variants
information (count: 2756 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2756 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568510696	chr7:4289348-4289349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537485646	chr7:4289389-4289390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557619307	chr7:4289402-4289403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577495507	chr7:4289562-4289563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367911231	chr7:4289579-4289580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185379008	chr7:4289589-4289590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144677288	chr7:4289634-4289635	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs573484743	chr7:4289649-4289650	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs190241620	chr7:4289650-4289651	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs145496941	chr7:4289656-4289657	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs575583303	chr7:4289682-4289683	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs549192503	chr7:4289692-4289693	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs182537482	chr7:4289699-4289700	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs564381555	chr7:4289708-4289709	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs148827585	chr7:4289745-4289746	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs529530655	chr7:4289746-4289747	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs34931244	chr7:4289782-4289783	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188054277	chr7:4289803-4289804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529101945	chr7:4289823-4289824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116844408	chr7:4289827-4289828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568894375	chr7:4289839-4289840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373585810	chr7:4289846-4289847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537827344	chr7:4289852-4289853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566244807	chr7:4289870-4289871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77574923	chr7:4289885-4289886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554050417	chr7:4289940-4289941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2342819	chr7:4289956-4289957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560936401	chr7:4289982-4289983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367949654	chr7:4289994-4289995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75368582	chr7:4289995-4289996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536994989	chr7:4289998-4289999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540098157	chr7:4290006-4290007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553705291	chr7:4290031-4290032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573470750	chr7:4290035-4290036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6946599	chr7:4290075-4290076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs148067147	chr7:4290093-4290094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575674344	chr7:4290104-4290105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544711698	chr7:4290148-4290149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141783373	chr7:4290169-4290170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577975003	chr7:4290197-4290198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576056911	chr7:4290199-4290200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540135589	chr7:4290219-4290220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572067859	chr7:4290229-4290230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539450407	chr7:4290272-4290273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560058413	chr7:4290307-4290308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529040230	chr7:4290323-4290324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34767188	chr7:4290330-4290331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146076582	chr7:4290364-4290365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562725123	chr7:4290377-4290378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531275261	chr7:4290400-4290401	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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4268000-4291800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:4278400-4296000	Weak transcription	Brain Germinal Matrix	brain
3	chr7:4284400-4290600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:4285000-4291200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:4285200-4290200	Weak transcription	Right Ventricle	heart
6	chr7:4285600-4301200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:4285800-4291000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:4286200-4290800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:4287600-4289600	Weak transcription	Spleen	Spleen
10	chr7:4287600-4304200	Weak transcription	Gastric	stomach
11	chr7:4287800-4289600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:4288000-4300800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:4288400-4289600	Weak transcription	Adipose Nuclei	Adipose
14	chr7:4288600-4290200	Weak transcription	Fetal Heart	heart
15	chr7:4288600-4290800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:4288600-4295600	Weak transcription	Fetal Brain Male	brain
17	chr7:4288600-4296000	Weak transcription	Fetal Brain Female	brain
18	chr7:4288600-4296000	Weak transcription	Fetal Kidney	kidney
19	chr7:4288600-4297800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:4288800-4290800	Weak transcription	Fetal Lung	lung
21	chr7:4289200-4289800	Strong transcription	Aorta	Aorta
22	chr7:4289200-4304000	Weak transcription	Pancreas	Pancrea
23	chr7:4289600-4289800	Active TSS	Spleen	Spleen
24	chr7:4289600-4290600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:4289800-4291000	Weak transcription	Aorta	Aorta
26	chr7:4290600-4291400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr7:4290600-4291600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
28	chr7:4290800-4291200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
29	chr7:4290800-4291600	Strong transcription	Fetal Lung	lung
30	chr7:4291000-4291400	ZNF genes & repeats	Aorta	Aorta
31	chr7:4291200-4295800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr7:4291400-4304200	Weak transcription	Aorta	Aorta
33	chr7:4291600-4295800	Weak transcription	Fetal Lung	lung
34	chr7:4292400-4292600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:4294600-4294800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr7:4294600-4298200	Enhancers	Fetal Stomach	stomach
37	chr7:4294800-4311800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:4295600-4297600	Enhancers	Fetal Brain Male	brain
39	chr7:4295800-4296000	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr7:4295800-4296200	Enhancers	Colon Smooth Muscle	Colon
41	chr7:4295800-4297000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:4295800-4297400	Enhancers	Fetal Lung	lung
43	chr7:4295800-4297600	Enhancers	Rectal Smooth Muscle	rectum
44	chr7:4296000-4296200	Active TSS	Stomach Smooth Muscle	stomach
45	chr7:4296000-4296800	Enhancers	Brain Germinal Matrix	brain
46	chr7:4296000-4296800	Enhancers	Fetal Kidney	kidney
47	chr7:4296000-4297000	Enhancers	Brain Cingulate Gyrus	brain
48	chr7:4296000-4297000	Enhancers	Fetal Brain Female	brain
49	chr7:4296200-4296600	Enhancers	Adipose Nuclei	Adipose
50	chr7:4296200-4296600	Flanking Active TSS	Colon Smooth Muscle	Colon

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