Variant report

Variant	nsv520309
Chromosome Location	chr1:188901145-188931828
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:188458178..188458728-chr1:188906958..188907936,3	MCF-7	breast:
2	chr1:188917480..188919329-chr1:188920804..188923130,2	MCF-7	breast:
3	chr1:188899689..188901909-chr1:188904686..188906688,2	K562	blood:
4	chr1:188896826..188898736-chr1:188903150..188906844,3	MCF-7	breast:
5	chr1:188899689..188901909-chr1:188904686..188906688,2	K562	blood:
6	chr1:188902220..188904596-chr1:189118871..189120838,2	K562	blood:
7	chr1:188751121..188751789-chr1:188907053..188907934,3	MCF-7	breast:
8	chr1:188917480..188919329-chr1:188920804..188923130,2	MCF-7	breast:

No data

Extended variants
information (count: 574 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10801032	chr1:188901145-188901146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150212279	chr1:188901172-188901173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189632536	chr1:188901179-188901180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138043715	chr1:188901222-188901223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533054446	chr1:188901236-188901237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142599203	chr1:188901300-188901301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145992995	chr1:188901334-188901335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73057858	chr1:188901419-188901420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs74138038	chr1:188901535-188901536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529452119	chr1:188901552-188901553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542770228	chr1:188901563-188901564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139998089	chr1:188901569-188901570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560351910	chr1:188901570-188901571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527489415	chr1:188901589-188901590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527375146	chr1:188901636-188901637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74138039	chr1:188901637-188901638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115483541	chr1:188901655-188901656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368296876	chr1:188901675-188901676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549050143	chr1:188901677-188901678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74138040	chr1:188901691-188901692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550120321	chr1:188901712-188901713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16829642	chr1:188901725-188901726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs149322223	chr1:188901833-188901834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74138041	chr1:188901886-188901887	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs74656298	chr1:188901974-188901975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142073915	chr1:188902023-188902024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535102548	chr1:188902024-188902025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531477131	chr1:188902067-188902068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35048454	chr1:188902089-188902090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148391016	chr1:188902124-188902125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375206773	chr1:188902157-188902158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577988165	chr1:188902241-188902242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571252423	chr1:188902260-188902261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192524600	chr1:188902270-188902271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557244273	chr1:188902276-188902277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573983105	chr1:188902288-188902289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142573782	chr1:188902297-188902298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559496529	chr1:188902319-188902320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572078601	chr1:188902324-188902325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541135628	chr1:188902327-188902328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116351630	chr1:188902329-188902330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184912220	chr1:188902330-188902331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549794098	chr1:188902360-188902361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563621617	chr1:188902368-188902369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529182271	chr1:188902398-188902399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555216372	chr1:188902403-188902404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112746773	chr1:188902420-188902421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115652193	chr1:188902437-188902438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565885756	chr1:188902475-188902476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534491775	chr1:188902479-188902480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:188898400-188910800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:188901800-188902400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:188907000-188907400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:188907200-188907400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:188907400-188911000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:188907600-188911000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:188910800-188911800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:188911000-188911200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:188911000-188911200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:188911000-188911600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:188911000-188911600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:188911000-188911600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:188911000-188911600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:188911000-188911800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:188911000-188911800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:188911200-188911400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:188911200-188911400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:188911200-188911600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:188911400-188911600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:188911400-188911600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr1:188911600-188912000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:188918800-188919200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:188918800-188919200	Enhancers	A549	lung
24	chr1:188922400-188922600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:188922400-188923400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:188922600-188922800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:188922600-188923000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:188922600-188923600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:188922800-188923400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:188922800-188923400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:188922800-188923600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:188923000-188923600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:188927600-188928000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:188927600-188928800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:188927800-188929000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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