Variant report

Variant	nsv521528
Chromosome Location	chr11:9667917-9672214
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	chr11:9647120..9648829-chr11:9667561..9670506,2	MCF-7	breast:
2	chr11:9634944..9638366-chr11:9672187..9674812,3	K562	blood:

Extended variants
information (count: 159 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10770050	chr11:9667917-9667918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534144493	chr11:9667918-9667919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577431400	chr11:9667930-9667931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574254078	chr11:9667946-9667947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542175443	chr11:9667964-9667965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555727859	chr11:9667965-9667966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575676998	chr11:9667973-9667974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188736018	chr11:9667988-9667989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192347662	chr11:9668031-9668032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117516802	chr11:9668063-9668064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372969201	chr11:9668064-9668065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540872731	chr11:9668155-9668156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201229897	chr11:9668193-9668194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140447419	chr11:9668202-9668203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529939620	chr11:9668212-9668213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35806232	chr11:9668215-9668216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562849345	chr11:9668246-9668247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144295842	chr11:9668257-9668258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551865791	chr11:9668361-9668362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184730530	chr11:9668377-9668378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534355590	chr11:9668417-9668418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545030611	chr11:9668442-9668443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547682629	chr11:9668565-9668566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558612468	chr11:9668582-9668583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376271350	chr11:9668593-9668594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143404208	chr11:9668616-9668617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374830782	chr11:9668620-9668621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77198068	chr11:9668623-9668624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188151896	chr11:9668635-9668636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs118184399	chr11:9668657-9668658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72390950	chr11:9668690-9668691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35669155	chr11:9668701-9668702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147035448	chr11:9668703-9668704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115004983	chr11:9668736-9668737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181006856	chr11:9668776-9668777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556464699	chr11:9668824-9668825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184831687	chr11:9668843-9668844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145490263	chr11:9668852-9668853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558577119	chr11:9668864-9668865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201995440	chr11:9668875-9668876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572056989	chr11:9668879-9668880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541164108	chr11:9668893-9668894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560923542	chr11:9668920-9668921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574603589	chr11:9668931-9668932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148824694	chr11:9668947-9668948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563591703	chr11:9669055-9669056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531709096	chr11:9669056-9669057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551802154	chr11:9669067-9669068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529906787	chr11:9669071-9669072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189709906	chr11:9669077-9669078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9660600-9670400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:9665200-9668400	Enhancers	Fetal Intestine Small	intestine
3	chr11:9666400-9669400	Weak transcription	Lung	lung
4	chr11:9666400-9670000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:9667200-9668200	Enhancers	Duodenum Mucosa	Duodenum
6	chr11:9667400-9668000	Enhancers	Fetal Heart	heart
7	chr11:9667600-9668000	Enhancers	Small Intestine	intestine
8	chr11:9667600-9668000	Enhancers	Spleen	Spleen
9	chr11:9667600-9668200	Enhancers	Fetal Intestine Large	intestine
10	chr11:9667600-9668200	Enhancers	Pancreas	Pancrea
11	chr11:9667600-9668600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr11:9667600-9670000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:9667800-9668000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:9667800-9668600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:9668000-9673200	Weak transcription	Small Intestine	intestine
16	chr11:9668000-9673200	Weak transcription	Spleen	Spleen
17	chr11:9669400-9669600	Enhancers	Lung	lung
18	chr11:9670000-9670400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:9670000-9670600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:9670000-9670600	Enhancers	HSMMtube	muscle
21	chr11:9670000-9671200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr11:9670000-9671200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr11:9670000-9671400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr11:9670200-9671200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr11:9670400-9670600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr11:9670400-9670600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:9670400-9673000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:9670600-9671000	Weak transcription	HSMMtube	muscle
29	chr11:9670600-9672800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:9671000-9671200	Enhancers	HSMMtube	muscle
31	chr11:9671200-9673400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr11:9671200-9673400	Weak transcription	HSMMtube	muscle

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