Variant report

Variant	nsv1034970
Chromosome Location	chr7:4283468-4405875
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4281480..4283823-chr7:4284575..4286412,2	MCF-7	breast:
2	chr7:4287888..4289875-chr7:4302608..4305550,2	MCF-7	breast:
3	chr7:4311748..4314192-chr7:4314238..4316719,2	MCF-7	breast:
4	chr7:4266434..4268284-chr7:4284245..4288090,3	MCF-7	breast:
5	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
6	chr7:4311748..4314192-chr7:4314238..4316719,2	MCF-7	breast:
7	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
8	chr7:4401235..4402088-chr7:4518606..4519411,2	MCF-7	breast:
9	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
10	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
11	chr7:4281480..4283823-chr7:4284575..4286412,2	MCF-7	breast:
12	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
13	chr7:4302968..4305028-chr7:4309435..4311444,2	MCF-7	breast:
14	chr7:4285802..4287439-chr7:4291050..4292753,2	MCF-7	breast:
15	chr7:4306283..4308245-chr7:4322606..4324838,2	MCF-7	breast:
16	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
17	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
18	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
19	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
20	chr7:4171607..4173163-chr7:4322084..4324253,2	K562	blood:
21	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
22	chr7:4277127..4279209-chr7:4282111..4283928,2	MCF-7	breast:
23	chr7:4309076..4311036-chr7:4311322..4313505,2	MCF-7	breast:
24	chr7:4309076..4311036-chr7:4311322..4313505,2	MCF-7	breast:
25	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
26	chr7:4302968..4305028-chr7:4309435..4311444,2	MCF-7	breast:
27	chr7:4280752..4283162-chr7:4283913..4286565,5	MCF-7	breast:
28	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
29	chr7:4306283..4308245-chr7:4322606..4324838,2	MCF-7	breast:
30	chr7:4309758..4311351-chr7:4312992..4314606,2	K562	blood:
31	chr7:4285802..4287439-chr7:4291050..4292753,2	MCF-7	breast:
32	chr7:4309758..4311351-chr7:4312992..4314606,2	K562	blood:
33	chr7:4287888..4289875-chr7:4302608..4305550,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000146555	chromatin interactions

Extended variants
information (count: 3298 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:3298 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386709557	chr7:4283468-4283469	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116755431	chr7:4283470-4283471	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541343335	chr7:4283507-4283508	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185477016	chr7:4283518-4283519	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141565954	chr7:4283519-4283520	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191030621	chr7:4283522-4283523	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183224569	chr7:4283551-4283552	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17134661	chr7:4283564-4283565	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531424409	chr7:4283586-4283587	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189102156	chr7:4283600-4283601	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367927013	chr7:4283602-4283603	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571882639	chr7:4283624-4283625	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534206056	chr7:4283638-4283639	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371995032	chr7:4283641-4283642	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375439352	chr7:4283661-4283662	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77562169	chr7:4283744-4283745	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73301695	chr7:4283747-4283748	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs575682004	chr7:4283752-4283753	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546325150	chr7:4283757-4283758	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10479843	chr7:4283769-4283770	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs558656222	chr7:4283778-4283779	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572436148	chr7:4283788-4283789	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374706029	chr7:4283790-4283791	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372414647	chr7:4283800-4283801	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34861141	chr7:4283828-4283829	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574638298	chr7:4283844-4283845	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543651761	chr7:4283857-4283858	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563337483	chr7:4283879-4283880	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145330349	chr7:4283947-4283948	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545944039	chr7:4283962-4283963	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559070980	chr7:4283967-4283968	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528130055	chr7:4283974-4283975	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147753588	chr7:4283988-4283989	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368905392	chr7:4284035-4284036	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530195063	chr7:4284089-4284090	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191454097	chr7:4284096-4284097	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183768033	chr7:4284190-4284191	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538729362	chr7:4284191-4284192	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564385026	chr7:4284208-4284209	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142638598	chr7:4284223-4284224	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535018456	chr7:4284226-4284227	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554526852	chr7:4284252-4284253	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538595580	chr7:4284266-4284267	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs143363972	chr7:4284267-4284268	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548762400	chr7:4284269-4284270	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115737128	chr7:4284278-4284279	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs566996523	chr7:4284294-4284295	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547361091	chr7:4284325-4284326	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148353860	chr7:4284328-4284329	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545571593	chr7:4284374-4284375	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	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:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4235800-4287200	Weak transcription	Gastric	stomach
2	chr7:4244400-4283800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:4244800-4283800	Weak transcription	Right Ventricle	heart
4	chr7:4255800-4284200	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:4256000-4283800	Weak transcription	Adipose Nuclei	Adipose
6	chr7:4256400-4283800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:4259800-4283600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:4261200-4285000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:4265200-4283600	Weak transcription	Fetal Lung	lung
10	chr7:4267800-4284400	Weak transcription	Fetal Brain Female	brain
11	chr7:4268000-4291800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:4268200-4284000	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:4275600-4287800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:4276600-4288600	Strong transcription	Aorta	Aorta
15	chr7:4278000-4283800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:4278000-4284000	Weak transcription	Fetal Intestine Large	intestine
17	chr7:4278400-4287600	Weak transcription	Fetal Heart	heart
18	chr7:4278400-4296000	Weak transcription	Brain Germinal Matrix	brain
19	chr7:4280200-4285200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:4280400-4285200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:4280400-4285400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:4280600-4285200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:4280800-4287800	Weak transcription	Fetal Kidney	kidney
24	chr7:4281200-4284600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:4281200-4285000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:4281400-4285800	Strong transcription	Pancreas	Pancrea
27	chr7:4281800-4283600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:4281800-4285200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:4282000-4283600	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:4282000-4285000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:4282000-4288600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:4282200-4283600	Weak transcription	Spleen	Spleen
33	chr7:4282400-4284200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:4282400-4284800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:4282600-4283600	Weak transcription	Fetal Stomach	stomach
36	chr7:4282600-4284400	Strong transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:4283200-4283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:4283200-4285000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:4283200-4288400	Weak transcription	Brain Angular Gyrus	brain
40	chr7:4283400-4285000	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr7:4283600-4284000	Strong transcription	Brain Hippocampus Middle	brain
42	chr7:4283600-4284000	Strong transcription	Fetal Lung	lung
43	chr7:4283600-4284000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
44	chr7:4283600-4284600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr7:4283600-4285000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr7:4283600-4285200	ZNF genes & repeats	Fetal Stomach	stomach
47	chr7:4283600-4287600	ZNF genes & repeats	Spleen	Spleen
48	chr7:4283600-4288000	Weak transcription	Fetal Brain Male	brain
49	chr7:4283800-4284600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
50	chr7:4283800-4284600	ZNF genes & repeats	Fetal Muscle Trunk	muscle

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