Variant report

Variant	nsv590922
Chromosome Location	chr3:89314862-89417064
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

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

No data

Extended variants
information (count: 2609 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2609 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs993186	chr3:89314862-89314863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189249136	chr3:89314883-89314884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534663948	chr3:89314933-89314934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78579869	chr3:89314985-89314986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529551663	chr3:89314992-89314993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6777119	chr3:89315046-89315047	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566254977	chr3:89315047-89315048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567333182	chr3:89315105-89315106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560117589	chr3:89315161-89315162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182056503	chr3:89315172-89315173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568453336	chr3:89315266-89315267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569972107	chr3:89315296-89315297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186590059	chr3:89315315-89315316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549076879	chr3:89315327-89315328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567414789	chr3:89315351-89315352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535971507	chr3:89315365-89315366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534555172	chr3:89315467-89315468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191450770	chr3:89315472-89315473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62274983	chr3:89315479-89315480	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs202246094	chr3:89315496-89315497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575398710	chr3:89315574-89315575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557170507	chr3:89315599-89315600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569647472	chr3:89315601-89315602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17026821	chr3:89315614-89315615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557978977	chr3:89315693-89315694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372905595	chr3:89315702-89315703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542597002	chr3:89315742-89315743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148759400	chr3:89315757-89315758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572952086	chr3:89315799-89315800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13100590	chr3:89315816-89315817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs560003806	chr3:89315819-89315820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533542534	chr3:89315873-89315874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141529396	chr3:89315883-89315884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535292086	chr3:89315888-89315889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1567732	chr3:89315893-89315894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs75301132	chr3:89315901-89315902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2346324	chr3:89315917-89315918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs190002808	chr3:89315938-89315939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528552775	chr3:89315971-89315972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1567731	chr3:89316027-89316028	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs182238354	chr3:89316028-89316029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150896847	chr3:89316042-89316043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557012979	chr3:89316065-89316066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75927652	chr3:89316068-89316069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188002546	chr3:89316091-89316092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73135453	chr3:89316119-89316120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573239278	chr3:89316185-89316186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572842243	chr3:89316207-89316208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193034500	chr3:89316218-89316219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2346325	chr3:89316242-89316243	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
Obesity	19966786	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89311600-89316400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:89312000-89316600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:89312000-89316800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:89312600-89316600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:89313000-89315600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:89313600-89316600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:89313600-89317000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:89313600-89317200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:89313600-89317400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:89313800-89316200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:89313800-89316200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:89313800-89316400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:89313800-89317400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:89314000-89316200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:89314400-89315400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:89314600-89315600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:89315400-89315600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:89315600-89316000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:89315600-89316000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:89315600-89316000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:89316000-89317000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:89316000-89317600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:89316000-89317800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:89316200-89317600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:89316200-89317800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:89316200-89318000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr3:89316400-89317000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:89316400-89317600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:89316400-89317600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:89316600-89317400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr3:89316600-89317400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:89316600-89317600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:89316800-89317600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:89317000-89317600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr3:89317200-89317600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr3:89317400-89317600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr3:89317400-89317600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:89317400-89319400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:89317600-89317800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:89317800-89325400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr3:89321800-89322600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr3:89323400-89325400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:89325000-89326800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr3:89325400-89325600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:89325400-89325600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:89325400-89325600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:89325400-89326000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr3:89325400-89326400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr3:89325400-89327400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr3:89325400-89327400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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