Variant report

Variant	nsv1029264
Chromosome Location	chr7:3549193-3622532
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
2	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
3	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
4	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:
5	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
6	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
7	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
8	chr7:3609002..3610756-chr7:3616407..3619133,2	MCF-7	breast:
9	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
10	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
11	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
12	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
13	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
14	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
15	chr7:3609002..3610756-chr7:3616407..3619133,2	MCF-7	breast:
16	chr6:34331825..34332645-chr7:3565574..3566479,2	MCF-7	breast:
17	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
18	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
19	chr7:3610768..3613073-chr7:3628327..3630622,2	MCF-7	breast:
20	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
21	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:
22	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
23	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:

No data

Extended variants
information (count: 4609 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:4609 , 50 per page) page: 1 2 3 4 5 6 7 ... 93

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532327069	chr7:3549259-3549260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552413944	chr7:3549298-3549299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186812370	chr7:3549311-3549312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528244895	chr7:3549317-3549318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547535184	chr7:3549318-3549319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145008630	chr7:3549352-3549353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377251286	chr7:3549386-3549387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549414569	chr7:3549410-3549411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567918656	chr7:3549416-3549417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535340778	chr7:3549455-3549456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142202569	chr7:3549458-3549459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556656846	chr7:3549461-3549462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368983954	chr7:3549470-3549471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549782455	chr7:3549491-3549492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553430716	chr7:3549561-3549562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191261343	chr7:3549563-3549564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76193505	chr7:3549565-3549566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559158905	chr7:3549570-3549571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372667779	chr7:3549582-3549583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181201047	chr7:3549590-3549591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185055942	chr7:3549612-3549613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574564157	chr7:3549631-3549632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377115992	chr7:3549632-3549633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543516048	chr7:3549634-3549635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567993448	chr7:3549640-3549641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189868413	chr7:3549652-3549653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576732117	chr7:3549693-3549694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545784492	chr7:3549730-3549731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559597779	chr7:3549737-3549738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528317795	chr7:3549758-3549759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144386036	chr7:3549760-3549761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147705026	chr7:3549762-3549763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142420519	chr7:3549831-3549832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549820923	chr7:3549839-3549840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36076521	chr7:3549843-3549844	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183169503	chr7:3549880-3549881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552635196	chr7:3549886-3549887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148287610	chr7:3549887-3549888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572548328	chr7:3549961-3549962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535260479	chr7:3550018-3550019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555224606	chr7:3550024-3550025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35790534	chr7:3550028-3550029	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537152923	chr7:3550053-3550054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7808972	chr7:3550061-3550062	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs532314474	chr7:3550064-3550065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576813159	chr7:3550085-3550086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140626801	chr7:3550088-3550089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553027788	chr7:3550106-3550107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544099499	chr7:3550122-3550123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150474328	chr7:3550139-3550140	Enhancers 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:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3548000-3550800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:3548600-3550000	Enhancers	Fetal Brain Male	brain
3	chr7:3548600-3550200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:3549200-3549400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:3549200-3550800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr7:3549200-3550800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:3549400-3550600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:3549400-3550800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:3549400-3550800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:3549400-3550800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:3549400-3550800	Enhancers	Primary B cells from cord blood	blood
12	chr7:3549400-3577000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:3549600-3550000	Enhancers	HSMM	muscle
14	chr7:3549600-3550000	Enhancers	NH-A	brain
15	chr7:3549600-3550400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:3549600-3550400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr7:3549600-3550600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:3549600-3550600	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:3549600-3550800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:3549600-3550800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:3549600-3550800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:3549800-3550800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr7:3549800-3550800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:3549800-3550800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:3550000-3550200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:3550000-3554400	Weak transcription	Fetal Brain Male	brain
27	chr7:3550200-3552800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:3550800-3557200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:3551400-3551600	Enhancers	Pancreas	Pancrea
30	chr7:3551600-3557000	Weak transcription	Pancreas	Pancrea
31	chr7:3552000-3552200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:3554400-3555200	Enhancers	Fetal Brain Male	brain
33	chr7:3554600-3554800	Enhancers	Aorta	Aorta
34	chr7:3554600-3555800	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr7:3554800-3563000	Weak transcription	Aorta	Aorta
36	chr7:3555800-3556200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:3556200-3557600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:3556200-3559800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr7:3557000-3557400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:3557000-3557400	Enhancers	Primary T cells from cord blood	blood
41	chr7:3557000-3557400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr7:3557000-3557400	Enhancers	Pancreas	Pancrea
43	chr7:3557000-3557600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr7:3557000-3557600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr7:3557200-3557400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:3557200-3557400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:3557200-3557400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
48	chr7:3557200-3557600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr7:3557400-3559600	Weak transcription	Primary T cells from cord blood	blood
50	chr7:3557400-3559800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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