Variant report

Variant	nsv590924
Chromosome Location	chr3:89375433-89417287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:89374528..89377645-chr3:89392593..89395332,3	MCF-7	breast:
2	chr3:89362727..89364940-chr3:89377326..89380080,2	MCF-7	breast:
3	chr3:89374362..89376361-chr3:89384187..89386718,2	MCF-7	breast:
4	chr3:89350735..89353187-chr3:89378356..89381194,2	MCF-7	breast:
5	chr3:89374362..89376361-chr3:89384187..89386718,2	MCF-7	breast:
6	chr3:89374528..89377645-chr3:89392593..89395332,3	MCF-7	breast:

Extended variants
information (count: 1439 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1439 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533606889	chr3:89377853-89377854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183311474	chr3:89377866-89377867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564063968	chr3:89377868-89377869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148476994	chr3:89377932-89377933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111949368	chr3:89378010-89378011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571219757	chr3:89378014-89378015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386663315	chr3:89378040-89378041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75547314	chr3:89378041-89378042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9310119	chr3:89378042-89378043	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs35835392	chr3:89378043-89378044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537267635	chr3:89378078-89378079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540269789	chr3:89378093-89378094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555516365	chr3:89378114-89378115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191526344	chr3:89378117-89378118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541698435	chr3:89378142-89378143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183639626	chr3:89378202-89378203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186825230	chr3:89378204-89378205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191247582	chr3:89378219-89378220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561841794	chr3:89378315-89378316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9310120	chr3:89378413-89378414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs28517432	chr3:89378418-89378419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11920966	chr3:89378425-89378426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561129401	chr3:89378429-89378430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544775429	chr3:89378430-89378431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528422975	chr3:89378470-89378471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546877152	chr3:89378534-89378535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571411678	chr3:89378555-89378556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531995008	chr3:89378573-89378574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201505096	chr3:89378669-89378670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550131379	chr3:89378672-89378673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568638696	chr3:89378737-89378738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185825614	chr3:89378741-89378742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555723039	chr3:89378743-89378744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567842481	chr3:89378744-89378745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534867458	chr3:89378786-89378787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553647539	chr3:89378793-89378794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556020144	chr3:89378839-89378840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs578243383	chr3:89378899-89378900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545448198	chr3:89378918-89378919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77953073	chr3:89378957-89378958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116185928	chr3:89378982-89378983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9310121	chr3:89378987-89378988	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561179532	chr3:89378988-89378989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528298254	chr3:89379033-89379034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540018732	chr3:89379093-89379094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145317219	chr3:89379125-89379126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532251402	chr3:89379206-89379207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550192787	chr3:89379293-89379294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60901889	chr3:89379335-89379336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568502129	chr3:89379383-89379384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89377800-89378400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr3:89378000-89378200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr3:89378000-89378200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:89378200-89380200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:89378400-89378600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:89378400-89378800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:89378400-89380200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:89378600-89379000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:89378600-89380200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:89378800-89381000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:89379000-89379400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:89379400-89384000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:89379800-89380200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:89380000-89382400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:89380000-89382800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:89380200-89380400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr3:89380200-89381200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:89380200-89381400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:89380200-89382600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:89380200-89383000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:89380400-89381200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:89380600-89381400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:89381000-89382400	Enhancers	Brain Germinal Matrix	brain
24	chr3:89381000-89382800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:89381200-89381800	Enhancers	Psoas Muscle	Psoas
26	chr3:89381200-89382000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr3:89381200-89382000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr3:89381200-89382000	Enhancers	Stomach Smooth Muscle	stomach
29	chr3:89381200-89382200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:89381200-89382200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:89381200-89382400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr3:89381200-89382400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr3:89381200-89382400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr3:89381200-89382800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:89381200-89383000	Enhancers	Fetal Brain Female	brain
36	chr3:89381400-89381800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr3:89381400-89382000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr3:89381400-89382000	Enhancers	Brain Angular Gyrus	brain
39	chr3:89381400-89382200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:89381400-89382200	Enhancers	Brain Substantia Nigra	brain
41	chr3:89381600-89382000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:89381600-89382000	Enhancers	Brain Anterior Caudate	brain
43	chr3:89381600-89382000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr3:89381600-89382000	Enhancers	Fetal Muscle Leg	muscle
45	chr3:89381600-89382200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:89381600-89382200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr3:89381600-89382200	Enhancers	Spleen	Spleen
48	chr3:89381600-89382400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:89381800-89383000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:89382000-89383600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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