Variant report

Variant	nsv1034716
Chromosome Location	chr7:3512406-3616155
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3528452..3531258-chr7:3533365..3536191,2	MCF-7	breast:
2	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
3	chr6:34331825..34332645-chr7:3565574..3566479,2	MCF-7	breast:
4	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
5	chr7:3521696..3522495-chr7:3631928..3632648,2	MCF-7	breast:
6	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
7	chr7:3537080..3539372-chr7:3543955..3546696,2	MCF-7	breast:
8	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
9	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
10	chr7:3537080..3539372-chr7:3543955..3546696,2	MCF-7	breast:
11	chr7:3525893..3527972-chr7:3528761..3530519,2	K562	blood:
12	chr7:3521340..3522302-chr7:4671144..4671918,2	MCF-7	breast:
13	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
14	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:
15	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:
16	chr7:3521823..3522640-chr7:3807742..3808264,2	MCF-7	breast:
17	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
18	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
19	chr7:3525893..3527972-chr7:3528761..3530519,2	K562	blood:
20	chr7:3528452..3531258-chr7:3533365..3536191,2	MCF-7	breast:
21	chr7:3610768..3613073-chr7:3628327..3630622,2	MCF-7	breast:
22	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
23	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
24	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
25	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
26	chr7:3521755..3523053-chr7:3688631..3689551,7	MCF-7	breast:
27	chr7:3439202..3440208-chr7:3521793..3522518,3	MCF-7	breast:
28	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
29	chr7:3609002..3610756-chr7:3616407..3619133,2	MCF-7	breast:
30	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
31	chr7:3522949..3523470-chr7:3687761..3688597,2	MCF-7	breast:
32	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
33	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
34	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
35	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:

No data

Extended variants
information (count: 6384 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:6384 , 50 per page) page: 1 2 3 4 5 6 7 ... 128

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560173136	chr7:3512411-3512412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370974849	chr7:3512421-3512422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190662399	chr7:3512431-3512432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149518414	chr7:3512433-3512434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562547583	chr7:3512436-3512437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531496196	chr7:3512444-3512445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534705312	chr7:3512456-3512457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552902344	chr7:3512469-3512470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533231177	chr7:3512490-3512491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546625264	chr7:3512498-3512499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566849188	chr7:3512510-3512511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374460389	chr7:3512525-3512526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543613674	chr7:3512529-3512530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182540324	chr7:3512539-3512540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569366170	chr7:3512576-3512577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538405086	chr7:3512579-3512580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574882198	chr7:3512591-3512592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577845403	chr7:3512593-3512594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533860580	chr7:3512612-3512613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188340883	chr7:3512620-3512621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79926907	chr7:3512624-3512625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139645640	chr7:3512627-3512628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114087640	chr7:3512663-3512664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561877562	chr7:3512667-3512668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377137505	chr7:3512682-3512683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546609154	chr7:3512704-3512705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576181657	chr7:3512711-3512712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542296314	chr7:3512739-3512740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144247876	chr7:3512749-3512750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146547458	chr7:3512787-3512788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564723606	chr7:3512791-3512792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530095973	chr7:3512796-3512797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548663738	chr7:3512819-3512820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546686622	chr7:3512857-3512858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560294952	chr7:3512891-3512892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115888059	chr7:3512904-3512905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114240740	chr7:3512920-3512921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569561921	chr7:3512957-3512958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192757498	chr7:3512973-3512974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140009127	chr7:3512974-3512975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78525413	chr7:3512992-3512993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571863727	chr7:3513016-3513017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527671800	chr7:3513038-3513039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372443888	chr7:3513041-3513042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533874032	chr7:3513048-3513049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553864769	chr7:3513054-3513055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78451702	chr7:3513063-3513064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570784929	chr7:3513103-3513104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538163773	chr7:3513106-3513107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557302922	chr7:3513115-3513116	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:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3491200-3526600	Weak transcription	Pancreas	Pancrea
2	chr7:3502000-3521200	Weak transcription	Aorta	Aorta
3	chr7:3506200-3521000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:3511200-3513000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:3511400-3512600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:3511400-3512800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:3511600-3512800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr7:3512000-3513600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:3512200-3515400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:3512400-3512600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:3512400-3512800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:3512400-3512800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:3512800-3522400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:3513000-3522000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:3513200-3513800	Enhancers	HepG2	liver
16	chr7:3513800-3515800	Weak transcription	Fetal Lung	lung
17	chr7:3515400-3516000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:3515800-3516000	Enhancers	Fetal Lung	lung
19	chr7:3516000-3521000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:3516000-3522200	Weak transcription	Fetal Lung	lung
21	chr7:3516400-3516600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:3516600-3522200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:3519800-3520200	Active TSS	K562	blood
24	chr7:3520000-3520200	Enhancers	Spleen	Spleen
25	chr7:3520600-3521000	Weak transcription	Spleen	Spleen
26	chr7:3521000-3521200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr7:3521000-3521200	Enhancers	Spleen	Spleen
28	chr7:3521000-3521600	Enhancers	HepG2	liver
29	chr7:3521000-3522400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:3521200-3521400	Enhancers	Aorta	Aorta
31	chr7:3521200-3522200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:3521400-3521800	Weak transcription	Spleen	Spleen
33	chr7:3521400-3528400	Weak transcription	Aorta	Aorta
34	chr7:3521600-3522000	Weak transcription	HepG2	liver
35	chr7:3522000-3522600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:3522000-3522600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:3522000-3522600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:3522000-3522600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:3522000-3522600	Enhancers	HepG2	liver
40	chr7:3522200-3522400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:3522200-3522400	Enhancers	Fetal Lung	lung
42	chr7:3522200-3522400	Enhancers	Spleen	Spleen
43	chr7:3522200-3522600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr7:3522200-3522600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr7:3522200-3522600	Enhancers	A549	lung
46	chr7:3522200-3523400	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr7:3522400-3522600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr7:3523400-3529200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:3526600-3526800	Enhancers	Pancreas	Pancrea
50	chr7:3526800-3527200	Weak transcription	Pancreas	Pancrea

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