Variant report

Variant	nsv3908
Chromosome Location	chr3:89490288-89535466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:89504768..89506340-chr3:89522107..89525061,2	MCF-7	breast:
2	chr11:109618581..109619323-chr3:89534199..89534756,2	MCF-7	breast:
3	chr3:89523628..89525803-chr3:89552585..89555851,3	MCF-7	breast:
4	chr3:89504768..89506340-chr3:89522107..89525061,2	MCF-7	breast:

Extended variants
information (count: 1515 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1515 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372269246	chr3:89490317-89490318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186392812	chr3:89490321-89490322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367900760	chr3:89490375-89490376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533027856	chr3:89490380-89490381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571664333	chr3:89490394-89490395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551456516	chr3:89490469-89490470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563094575	chr3:89490652-89490653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530514777	chr3:89490661-89490662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376602931	chr3:89490691-89490692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527755373	chr3:89490734-89490735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74610319	chr3:89490774-89490775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111665839	chr3:89490810-89490811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535764442	chr3:89490821-89490822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190279256	chr3:89490879-89490880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549505581	chr3:89490900-89490901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539509143	chr3:89490969-89490970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544298312	chr3:89490978-89490979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563046887	chr3:89490997-89490998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115461579	chr3:89491025-89491026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116635254	chr3:89491039-89491040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555832340	chr3:89491070-89491071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573947102	chr3:89491078-89491079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569269551	chr3:89491091-89491092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541358974	chr3:89491168-89491169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559541980	chr3:89491192-89491193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577920954	chr3:89491212-89491213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544913706	chr3:89491217-89491218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563375999	chr3:89491227-89491228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144172516	chr3:89491527-89491528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114162394	chr3:89491584-89491585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560573361	chr3:89491585-89491586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182485376	chr3:89491618-89491619	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547550383	chr3:89491626-89491627	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550326699	chr3:89491627-89491628	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547696118	chr3:89491646-89491647	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566074149	chr3:89491685-89491686	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570440348	chr3:89491686-89491687	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567892124	chr3:89491695-89491696	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551713893	chr3:89491703-89491704	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186767582	chr3:89491714-89491715	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537162101	chr3:89491724-89491725	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189622964	chr3:89491738-89491739	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567667586	chr3:89491769-89491770	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75258709	chr3:89491782-89491783	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553293835	chr3:89491785-89491786	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73846171	chr3:89491791-89491792	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545174461	chr3:89491805-89491806	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556894284	chr3:89491848-89491849	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575271116	chr3:89491854-89491855	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577785362	chr3:89491855-89491856	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	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
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Obesity	21131291	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	20531469	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89460800-89521200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:89484200-89491600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:89489600-89490400	Enhancers	Fetal Brain Male	brain
4	chr3:89489600-89491000	Enhancers	Fetal Lung	lung
5	chr3:89489800-89490600	Enhancers	Fetal Brain Female	brain
6	chr3:89489800-89491200	Enhancers	Fetal Stomach	stomach
7	chr3:89491600-89493000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:89493000-89498400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:89494200-89494400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:89494400-89499400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:89498400-89501000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:89498800-89506400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:89499400-89499600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:89500600-89500800	Enhancers	Fetal Brain Female	brain
15	chr3:89500800-89501600	Enhancers	Fetal Brain Male	brain
16	chr3:89500800-89532400	Weak transcription	Fetal Brain Female	brain
17	chr3:89501000-89503000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:89501400-89521600	Weak transcription	Brain Germinal Matrix	brain
19	chr3:89503000-89504000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:89504000-89519800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:89504200-89505000	Enhancers	Fetal Lung	lung
22	chr3:89506400-89506600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:89506600-89506800	ZNF genes & repeats	Fetal Stomach	stomach
24	chr3:89506600-89527800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:89506800-89508800	Weak transcription	Fetal Stomach	stomach
26	chr3:89508800-89509000	ZNF genes & repeats	Fetal Stomach	stomach
27	chr3:89509000-89517000	Weak transcription	Fetal Stomach	stomach
28	chr3:89515800-89516200	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr3:89515800-89516200	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr3:89515800-89516200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:89516200-89516600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:89516200-89516800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:89516600-89517200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:89516600-89517600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr3:89516800-89517200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr3:89516800-89517400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr3:89516800-89517400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr3:89516800-89517600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:89517000-89517200	Enhancers	Fetal Muscle Leg	muscle
40	chr3:89517000-89517400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:89517000-89517400	Enhancers	Fetal Stomach	stomach
42	chr3:89517200-89527600	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:89517400-89523400	Weak transcription	Fetal Stomach	stomach
44	chr3:89519800-89520200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:89520200-89521400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:89521200-89521800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr3:89521400-89523000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:89521600-89523000	Strong transcription	Brain Germinal Matrix	brain
49	chr3:89521800-89528000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr3:89523000-89523800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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