Variant report

Variant	nsv590921
Chromosome Location	chr3:89294149-89392778
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:89350735..89353187-chr3:89378356..89381194,2	MCF-7	breast:
2	chr3:89297960..89300336-chr3:89314648..89316430,2	MCF-7	breast:
3	chr3:89374362..89376361-chr3:89384187..89386718,2	MCF-7	breast:
4	chr3:89374528..89377645-chr3:89392593..89395332,3	MCF-7	breast:
5	chr3:89362727..89364940-chr3:89377326..89380080,2	MCF-7	breast:
6	chr3:89374528..89377645-chr3:89392593..89395332,3	MCF-7	breast:
7	chr3:89362727..89364940-chr3:89377326..89380080,2	MCF-7	breast:
8	chr3:89313859..89316197-chr3:89316268..89318290,2	MCF-7	breast:
9	chr3:89313859..89316197-chr3:89316268..89318290,2	MCF-7	breast:
10	chr3:89290113..89292001-chr3:89293257..89295439,2	MCF-7	breast:
11	chr3:89363341..89364322-chr3:89553265..89554099,2	MCF-7	breast:
12	chr3:89363361..89364089-chr3:89576940..89577502,2	MCF-7	breast:
13	chr3:89363840..89366727-chr3:89369296..89370950,2	MCF-7	breast:
14	chr3:89350735..89353187-chr3:89378356..89381194,2	MCF-7	breast:
15	chr3:89363840..89366727-chr3:89369296..89370950,2	MCF-7	breast:
16	chr3:89297960..89300336-chr3:89314648..89316430,2	MCF-7	breast:
17	chr3:89374362..89376361-chr3:89384187..89386718,2	MCF-7	breast:

No data

Extended variants
information (count: 2463 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2463 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4857497	chr3:89294149-89294150	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75273320	chr3:89294155-89294156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563337143	chr3:89294170-89294171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139789300	chr3:89294171-89294172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570217746	chr3:89294195-89294196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537609309	chr3:89294200-89294201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556118735	chr3:89294207-89294208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145311989	chr3:89294216-89294217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369701267	chr3:89294252-89294253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535027005	chr3:89294270-89294271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553322829	chr3:89294305-89294306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78318783	chr3:89294441-89294442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373172734	chr3:89294473-89294474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542927875	chr3:89294488-89294489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72921792	chr3:89294503-89294504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563596612	chr3:89294541-89294542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575408603	chr3:89294552-89294553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373776008	chr3:89294556-89294557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575116720	chr3:89294563-89294564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74533221	chr3:89294591-89294592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564258028	chr3:89294617-89294618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560855847	chr3:89294624-89294625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9883541	chr3:89294657-89294658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559586626	chr3:89294725-89294726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189777321	chr3:89294745-89294746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564878684	chr3:89294781-89294782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532145586	chr3:89294826-89294827	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs550668355	chr3:89294827-89294828	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs142088958	chr3:89294881-89294882	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs377288253	chr3:89294888-89294889	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546819629	chr3:89294898-89294899	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs537645686	chr3:89294901-89294902	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs369359956	chr3:89294905-89294906	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs151171451	chr3:89294990-89294991	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs568000077	chr3:89295002-89295003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535324911	chr3:89295027-89295028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553125891	chr3:89295049-89295050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180968396	chr3:89295053-89295054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373292200	chr3:89295095-89295096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185963156	chr3:89295108-89295109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538625811	chr3:89295154-89295155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78313342	chr3:89295193-89295194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190953090	chr3:89295212-89295213	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs60893359	chr3:89295263-89295264	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs58341586	chr3:89295355-89295356	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs75356400	chr3:89295374-89295375	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs540508061	chr3:89295380-89295381	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs565000850	chr3:89295401-89295402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181748986	chr3:89295408-89295409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561793142	chr3:89295420-89295421	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	19651600	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Obesity	19966786	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89289600-89294600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:89293800-89296400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:89293800-89297400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:89294000-89294200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:89294000-89294400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:89294000-89296200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:89294000-89296200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:89294000-89296400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:89294000-89296800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:89294200-89296800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:89294400-89294800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:89294600-89295200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:89294600-89296200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:89294800-89295000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:89294800-89295000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr3:89294800-89295000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:89294800-89295200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:89294800-89295400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:89295000-89295200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:89295000-89296200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr3:89295200-89295400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr3:89295400-89296200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:89296200-89297600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:89296200-89302200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr3:89296400-89301600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:89296800-89297800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:89297400-89302000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:89297600-89298400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:89297800-89298000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:89298200-89298400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:89301600-89301800	Enhancers	Fetal Stomach	stomach
32	chr3:89301600-89303800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:89301800-89303800	Weak transcription	Fetal Stomach	stomach
34	chr3:89302000-89302800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:89302200-89302400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr3:89302200-89303200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:89303800-89304000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:89303800-89304600	Enhancers	Fetal Stomach	stomach
39	chr3:89303800-89310000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:89304200-89309800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:89305400-89306600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:89305800-89306600	Enhancers	HepG2	liver
43	chr3:89306000-89310000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:89306600-89306800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr3:89306800-89309800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr3:89309000-89312600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:89309200-89309800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:89309200-89310600	Enhancers	Brain Substantia Nigra	brain
49	chr3:89309200-89311000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:89309800-89310000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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