Variant report

Variant	nsv1030363
Chromosome Location	chr7:3541046-3577665
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
2	chr7:3537080..3539372-chr7:3543955..3546696,2	MCF-7	breast:
3	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
4	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
5	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
6	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
7	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
8	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
9	chr6:34331825..34332645-chr7:3565574..3566479,2	MCF-7	breast:
10	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
11	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
12	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:

No data

Extended variants
information (count: 2222 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2222 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183995281	chr7:3541059-3541060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142067731	chr7:3541066-3541067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11972798	chr7:3541089-3541090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554356554	chr7:3541102-3541103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17133471	chr7:3541118-3541119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2614957	chr7:3541121-3541122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs118174385	chr7:3541180-3541181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537815078	chr7:3541187-3541188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373186336	chr7:3541192-3541193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531579436	chr7:3541195-3541196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545305740	chr7:3541197-3541198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565190965	chr7:3541214-3541215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527925533	chr7:3541223-3541224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188885798	chr7:3541237-3541238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567282838	chr7:3541243-3541244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376877505	chr7:3541270-3541271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17133475	chr7:3541271-3541272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28544580	chr7:3541273-3541274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192374617	chr7:3541274-3541275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569645590	chr7:3541285-3541286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538600255	chr7:3541292-3541293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111485356	chr7:3541299-3541300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142098230	chr7:3541308-3541309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565978167	chr7:3541315-3541316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534856178	chr7:3541360-3541361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183290573	chr7:3541369-3541370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545474867	chr7:3541371-3541372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187537691	chr7:3541376-3541377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553105907	chr7:3541405-3541406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536774601	chr7:3541415-3541416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556341972	chr7:3541422-3541423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191617933	chr7:3541428-3541429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554152138	chr7:3541474-3541475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544998175	chr7:3541511-3541512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111324261	chr7:3541517-3541518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572387074	chr7:3541535-3541536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541253262	chr7:3541593-3541594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561551012	chr7:3541637-3541638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186739060	chr7:3541640-3541641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549860811	chr7:3541650-3541651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563192374	chr7:3541690-3541691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372604678	chr7:3541691-3541692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532194054	chr7:3541708-3541709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115827091	chr7:3541712-3541713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566016026	chr7:3541738-3541739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17133477	chr7:3541740-3541741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548157882	chr7:3541747-3541748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191549822	chr7:3541750-3541751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561329481	chr7:3541855-3541856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199515167	chr7:3541864-3541865	Weak transcription	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:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3534800-3545000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:3545000-3545200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
3	chr7:3545000-3545600	ZNF genes & repeats	Aorta	Aorta
4	chr7:3545400-3548000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:3545600-3547000	Weak transcription	Aorta	Aorta
6	chr7:3546200-3546400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:3547000-3547400	Enhancers	Aorta	Aorta
8	chr7:3548000-3550800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:3548600-3550000	Enhancers	Fetal Brain Male	brain
10	chr7:3548600-3550200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:3549200-3549400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:3549200-3550800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:3549200-3550800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:3549400-3550600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:3549400-3550800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:3549400-3550800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:3549400-3550800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:3549400-3550800	Enhancers	Primary B cells from cord blood	blood
19	chr7:3549400-3577000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:3549600-3550000	Enhancers	HSMM	muscle
21	chr7:3549600-3550000	Enhancers	NH-A	brain
22	chr7:3549600-3550400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:3549600-3550400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr7:3549600-3550600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:3549600-3550600	Enhancers	Primary B cells from peripheral blood	blood
26	chr7:3549600-3550800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:3549600-3550800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:3549600-3550800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:3549800-3550800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr7:3549800-3550800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:3549800-3550800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:3550000-3550200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:3550000-3554400	Weak transcription	Fetal Brain Male	brain
34	chr7:3550200-3552800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:3550800-3557200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:3551400-3551600	Enhancers	Pancreas	Pancrea
37	chr7:3551600-3557000	Weak transcription	Pancreas	Pancrea
38	chr7:3552000-3552200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:3554400-3555200	Enhancers	Fetal Brain Male	brain
40	chr7:3554600-3554800	Enhancers	Aorta	Aorta
41	chr7:3554600-3555800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr7:3554800-3563000	Weak transcription	Aorta	Aorta
43	chr7:3555800-3556200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:3556200-3557600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:3556200-3559800	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr7:3557000-3557400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:3557000-3557400	Enhancers	Primary T cells from cord blood	blood
48	chr7:3557000-3557400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr7:3557000-3557400	Enhancers	Pancreas	Pancrea
50	chr7:3557000-3557600	Enhancers	Primary neutrophils fromperipheralblood	blood

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