Variant report

Variant	nsv538678
Chromosome Location	chr7:3565356-3607155
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	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
2	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
3	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
4	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
5	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
6	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
7	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
8	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
9	chr6:34331825..34332645-chr7:3565574..3566479,2	MCF-7	breast:

No data

Extended variants
information (count: 2617 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2617 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567387916	chr7:3565359-3565360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571732343	chr7:3565363-3565364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536305438	chr7:3565367-3565368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376793227	chr7:3565369-3565370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190237514	chr7:3565379-3565380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538874528	chr7:3565380-3565381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73035965	chr7:3565384-3565385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538969035	chr7:3565399-3565400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550231248	chr7:3565443-3565444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10256110	chr7:3565452-3565453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs371579795	chr7:3565458-3565459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572271324	chr7:3565459-3565460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540848743	chr7:3565466-3565467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75737513	chr7:3565470-3565471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80242025	chr7:3565472-3565473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542705151	chr7:3565475-3565476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148108504	chr7:3565511-3565512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183431925	chr7:3565518-3565519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187548070	chr7:3565522-3565523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545716410	chr7:3565560-3565561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141866100	chr7:3565581-3565582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191149940	chr7:3565588-3565589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111809852	chr7:3565594-3565595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150612668	chr7:3565595-3565596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182666780	chr7:3565619-3565620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549898294	chr7:3565648-3565649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569669685	chr7:3565669-3565670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372594961	chr7:3565695-3565696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557070439	chr7:3565721-3565722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565839101	chr7:3565772-3565773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534567737	chr7:3565844-3565845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554386423	chr7:3565846-3565847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574291416	chr7:3565862-3565863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112433054	chr7:3565873-3565874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542743535	chr7:3565899-3565900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141032466	chr7:3565900-3565901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576446084	chr7:3565909-3565910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143269546	chr7:3565915-3565916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577091473	chr7:3565922-3565923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187620815	chr7:3565939-3565940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527985767	chr7:3565942-3565943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541735692	chr7:3565952-3565953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112918488	chr7:3565971-3565972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147516387	chr7:3566021-3566022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550364831	chr7:3566032-3566033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569673595	chr7:3566046-3566047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2464613	chr7:3566066-3566067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs370233221	chr7:3566115-3566116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551895342	chr7:3566116-3566117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571572609	chr7:3566127-3566128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:239 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3549400-3577000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3563200-3567000	Weak transcription	Gastric	stomach
3	chr7:3564600-3567400	Enhancers	Fetal Brain Male	brain
4	chr7:3565000-3566400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:3565200-3567000	Weak transcription	Pancreas	Pancrea
6	chr7:3565200-3568000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:3566400-3567200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:3566400-3567200	Enhancers	Fetal Stomach	stomach
9	chr7:3567000-3567400	Weak transcription	Spleen	Spleen
10	chr7:3567000-3567600	Enhancers	Gastric	stomach
11	chr7:3567000-3567600	Enhancers	Pancreas	Pancrea
12	chr7:3567200-3567400	Enhancers	Right Ventricle	heart
13	chr7:3567200-3569200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:3567400-3567600	Enhancers	Spleen	Spleen
15	chr7:3567600-3568200	Weak transcription	Pancreas	Pancrea
16	chr7:3567600-3572000	Weak transcription	Gastric	stomach
17	chr7:3567600-3579800	Weak transcription	Spleen	Spleen
18	chr7:3568200-3569600	Enhancers	Pancreas	Pancrea
19	chr7:3569000-3569400	Enhancers	Right Ventricle	heart
20	chr7:3569200-3572800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:3569600-3572000	Weak transcription	Pancreas	Pancrea
22	chr7:3572000-3572600	Enhancers	Gastric	stomach
23	chr7:3572000-3572600	Enhancers	Pancreas	Pancrea
24	chr7:3572600-3584600	Weak transcription	Pancreas	Pancrea
25	chr7:3572800-3573200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:3572800-3573600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr7:3572800-3573600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr7:3573200-3573600	Enhancers	Primary T cells from cord blood	blood
29	chr7:3573200-3573600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:3573600-3573800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr7:3573600-3574000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr7:3573800-3576200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:3575000-3575200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr7:3576600-3577000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr7:3576800-3577000	Enhancers	Fetal Kidney	kidney
36	chr7:3576800-3577200	Enhancers	HSMMtube	muscle
37	chr7:3576800-3577600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:3576800-3577600	Enhancers	HSMM	muscle
39	chr7:3576800-3577800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:3576800-3578400	Enhancers	Fetal Muscle Trunk	muscle
41	chr7:3577000-3577200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr7:3577000-3577400	Enhancers	Fetal Brain Male	brain
43	chr7:3577000-3577600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:3577000-3577600	Enhancers	NH-A	brain
45	chr7:3577000-3577800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:3577000-3578800	Enhancers	Fetal Muscle Leg	muscle
47	chr7:3577000-3580000	Weak transcription	Fetal Kidney	kidney
48	chr7:3577200-3577400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr7:3577200-3577600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:3577200-3577600	Flanking Active TSS	HSMMtube	muscle

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