Variant report

Variant	nsv538694
Chromosome Location	chr7:4290999-4403382
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

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

No data

Extended variants
information (count: 2688 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2688 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189287850	chr7:4291022-4291023	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562964232	chr7:4291029-4291030	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569350197	chr7:4291031-4291032	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138790631	chr7:4291041-4291042	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78628496	chr7:4291057-4291058	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180913064	chr7:4291069-4291070	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574633381	chr7:4291079-4291080	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116233718	chr7:4291086-4291087	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553716532	chr7:4291118-4291119	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573708118	chr7:4291133-4291134	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542509459	chr7:4291151-4291152	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185569162	chr7:4291186-4291187	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149358415	chr7:4291196-4291197	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76657264	chr7:4291204-4291205	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189431763	chr7:4291228-4291229	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527351050	chr7:4291241-4291242	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144677834	chr7:4291243-4291244	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560824091	chr7:4291247-4291248	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75608573	chr7:4291261-4291262	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563249383	chr7:4291277-4291278	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74328717	chr7:4291282-4291283	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374172362	chr7:4291351-4291352	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531791583	chr7:4291422-4291423	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551924522	chr7:4291539-4291540	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563417294	chr7:4291551-4291552	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11984013	chr7:4291575-4291576	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs533989781	chr7:4291612-4291613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547488874	chr7:4291632-4291633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181484615	chr7:4291652-4291653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536689528	chr7:4291655-4291656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556168176	chr7:4291661-4291662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576312310	chr7:4291702-4291703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530864672	chr7:4291709-4291710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186024102	chr7:4291715-4291716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558748643	chr7:4291723-4291724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548904347	chr7:4291761-4291762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572276580	chr7:4291820-4291821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3933437	chr7:4291837-4291838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190095535	chr7:4291846-4291847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561009825	chr7:4291861-4291862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547440470	chr7:4291867-4291868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574470899	chr7:4291914-4291915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543435259	chr7:4291922-4291923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563159899	chr7:4291958-4291959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531999455	chr7:4292002-4292003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370910043	chr7:4292012-4292013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565090797	chr7:4292028-4292029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6961520	chr7:4292092-4292093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181104740	chr7:4292138-4292139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186384800	chr7:4292139-4292140	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:278 , 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	chr7:4285000-4291200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:4285600-4301200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:4285800-4291000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:4287600-4304200	Weak transcription	Gastric	stomach
7	chr7:4288000-4300800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:4288600-4295600	Weak transcription	Fetal Brain Male	brain
9	chr7:4288600-4296000	Weak transcription	Fetal Brain Female	brain
10	chr7:4288600-4296000	Weak transcription	Fetal Kidney	kidney
11	chr7:4288600-4297800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:4289200-4304000	Weak transcription	Pancreas	Pancrea
13	chr7:4289800-4291000	Weak transcription	Aorta	Aorta
14	chr7:4290600-4291400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr7:4290600-4291600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
16	chr7:4290800-4291200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
17	chr7:4290800-4291600	Strong transcription	Fetal Lung	lung
18	chr7:4291000-4291400	ZNF genes & repeats	Aorta	Aorta
19	chr7:4291200-4295800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:4291400-4304200	Weak transcription	Aorta	Aorta
21	chr7:4291600-4295800	Weak transcription	Fetal Lung	lung
22	chr7:4292400-4292600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:4294600-4294800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr7:4294600-4298200	Enhancers	Fetal Stomach	stomach
25	chr7:4294800-4311800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:4295600-4297600	Enhancers	Fetal Brain Male	brain
27	chr7:4295800-4296000	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr7:4295800-4296200	Enhancers	Colon Smooth Muscle	Colon
29	chr7:4295800-4297000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:4295800-4297400	Enhancers	Fetal Lung	lung
31	chr7:4295800-4297600	Enhancers	Rectal Smooth Muscle	rectum
32	chr7:4296000-4296200	Active TSS	Stomach Smooth Muscle	stomach
33	chr7:4296000-4296800	Enhancers	Brain Germinal Matrix	brain
34	chr7:4296000-4296800	Enhancers	Fetal Kidney	kidney
35	chr7:4296000-4297000	Enhancers	Brain Cingulate Gyrus	brain
36	chr7:4296000-4297000	Enhancers	Fetal Brain Female	brain
37	chr7:4296200-4296600	Enhancers	Adipose Nuclei	Adipose
38	chr7:4296200-4296600	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr7:4296200-4297000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:4296200-4297000	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr7:4296200-4297200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr7:4296200-4297400	Enhancers	Brain Hippocampus Middle	brain
43	chr7:4296400-4296800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:4296600-4297800	Enhancers	Colon Smooth Muscle	Colon
45	chr7:4296800-4300600	Weak transcription	Brain Germinal Matrix	brain
46	chr7:4297000-4297200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:4297000-4297400	Enhancers	Stomach Smooth Muscle	stomach
48	chr7:4297000-4298200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:4297200-4297600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:4297200-4300800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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