Variant report

Variant	nsv515607
Chromosome Location	chr3:87742747-87766735
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:87752670..87754550-chr3:87776800..87779392,2	MCF-7	breast:
2	chr3:87745181..87747327-chr3:87772407..87775801,3	K562	blood:

Extended variants
information (count: 464 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187136011	chr3:87743817-87743818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150832696	chr3:87743850-87743851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559560796	chr3:87743905-87743906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190095640	chr3:87743919-87743920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563521911	chr3:87743932-87743933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531157284	chr3:87743978-87743979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139253249	chr3:87743989-87743990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536017471	chr3:87744208-87744209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554848804	chr3:87744221-87744222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59833924	chr3:87744232-87744233	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs4859093	chr3:87744310-87744311	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186516058	chr3:87744373-87744374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11928408	chr3:87744412-87744413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189783872	chr3:87744432-87744433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563581056	chr3:87744443-87744444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183151767	chr3:87744479-87744480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111838148	chr3:87744483-87744484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572066319	chr3:87744496-87744497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561641576	chr3:87744524-87744525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528765642	chr3:87744567-87744568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540710164	chr3:87744584-87744585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571258318	chr3:87744590-87744591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532283659	chr3:87744603-87744604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370022840	chr3:87744629-87744630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563732281	chr3:87744663-87744664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568810276	chr3:87744667-87744668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577142994	chr3:87744674-87744675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373517172	chr3:87744773-87744774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79914699	chr3:87744801-87744802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397877735	chr3:87744818-87744819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs33927229	chr3:87744819-87744820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548048996	chr3:87744891-87744892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145796407	chr3:87744944-87744945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188681478	chr3:87744995-87744996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193285418	chr3:87745045-87745046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377318231	chr3:87745054-87745055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577605909	chr3:87745071-87745072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538609556	chr3:87745159-87745160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148859594	chr3:87745220-87745221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374686796	chr3:87745264-87745265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115425771	chr3:87745305-87745306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528701553	chr3:87745348-87745349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548725443	chr3:87745473-87745474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562083811	chr3:87745474-87745475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534284294	chr3:87745484-87745485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143495783	chr3:87745573-87745574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527785668	chr3:87745582-87745583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373134656	chr3:87745619-87745620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554251490	chr3:87745667-87745668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150941606	chr3:87745714-87745715	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
head and neck squamous cell carcinoma	17671120	CNVD
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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87743800-87744000	Enhancers	HSMMtube	muscle
2	chr3:87744200-87744600	Enhancers	Fetal Muscle Leg	muscle
3	chr3:87744200-87745400	Weak transcription	HSMMtube	muscle
4	chr3:87744600-87745000	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:87745000-87745800	Enhancers	Fetal Muscle Leg	muscle
6	chr3:87745400-87746000	Enhancers	HSMMtube	muscle
7	chr3:87745600-87746000	Enhancers	K562	blood
8	chr3:87754600-87754800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr3:87754600-87756600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr3:87754800-87755200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr3:87755000-87755600	Enhancers	HMEC	breast
12	chr3:87755200-87755600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr3:87755200-87756400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr3:87756200-87756800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:87756400-87759200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr3:87756800-87765600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:87759200-87760000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr3:87759600-87760000	Active TSS	Fetal Heart	heart
19	chr3:87765600-87766000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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