Variant report

Variant	nsv553760
Chromosome Location	chr11:23569160-23677246
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	chr11:23135057..23135761-chr11:23575313..23576218,2	MCF-7	breast:
2	chr11:23623560..23625973-chr11:23631898..23634252,2	MCF-7	breast:
3	chr11:23438196..23441046-chr11:23620959..23622715,2	K562	blood:
4	chr11:23646416..23648510-chr11:23648713..23651046,2	K562	blood:
5	chr11:23628052..23630839-chr11:23632616..23635323,2	K562	blood:
6	chr11:23623560..23625973-chr11:23631898..23634252,2	MCF-7	breast:
7	chr11:23628052..23630839-chr11:23632616..23635323,2	K562	blood:
8	chr11:23646416..23648510-chr11:23648713..23651046,2	K562	blood:

No data

Extended variants
information (count: 1958 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1958 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11027306	chr11:23569160-23569161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563956745	chr11:23569170-23569171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570324341	chr11:23569185-23569186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141638511	chr11:23569220-23569221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181685349	chr11:23569242-23569243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187096846	chr11:23569274-23569275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539165895	chr11:23569282-23569283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559028133	chr11:23569361-23569362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189465094	chr11:23569397-23569398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551372571	chr11:23569403-23569404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531353396	chr11:23569446-23569447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150107307	chr11:23569461-23569462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35864120	chr11:23569468-23569469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55650407	chr11:23569488-23569489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549833096	chr11:23569493-23569494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568745958	chr11:23569579-23569580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115022257	chr11:23569599-23569600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550498150	chr11:23569629-23569630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536199304	chr11:23569653-23569654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567507722	chr11:23569685-23569686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536457985	chr11:23569702-23569703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375333741	chr11:23569721-23569722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557173957	chr11:23569762-23569763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11824733	chr11:23569779-23569780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs181398343	chr11:23569782-23569783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558163668	chr11:23569790-23569791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369940218	chr11:23569848-23569849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578186577	chr11:23569880-23569881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376080645	chr11:23569888-23569889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536813862	chr11:23569901-23569902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537790837	chr11:23569904-23569905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184886472	chr11:23569939-23569940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189691911	chr11:23569978-23569979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555314266	chr11:23569988-23569989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182323894	chr11:23570077-23570078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139813591	chr11:23570082-23570083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11529734	chr11:23570083-23570084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs190999503	chr11:23570110-23570111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138545199	chr11:23570125-23570126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564941518	chr11:23570130-23570131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573623997	chr11:23570146-23570147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34594566	chr11:23570170-23570171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550809000	chr11:23570247-23570248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183314981	chr11:23570265-23570266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149401118	chr11:23570267-23570268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188716768	chr11:23570268-23570269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11529735	chr11:23570271-23570272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs192564662	chr11:23570297-23570298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551478169	chr11:23570299-23570300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79063537	chr11:23570338-23570339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:23561600-23577600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:23571600-23572000	Enhancers	Dnd41	blood
3	chr11:23571800-23572400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:23575600-23577600	Enhancers	HUVEC	blood vessel
5	chr11:23576200-23576800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:23576400-23577400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:23576800-23577400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:23576800-23577600	Enhancers	Hela-S3	cervix
9	chr11:23577000-23577600	Enhancers	NH-A	brain
10	chr11:23577200-23578400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:23577200-23578400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:23577200-23578600	Enhancers	Dnd41	blood
13	chr11:23577600-23578400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:23577600-23579800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:23578000-23578400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:23579800-23580400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:23580000-23580600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr11:23580200-23580600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr11:23585400-23587000	Enhancers	Dnd41	blood
20	chr11:23585600-23587800	Enhancers	Brain Germinal Matrix	brain
21	chr11:23585800-23586200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:23586600-23587000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:23587000-23588400	Weak transcription	Dnd41	blood
24	chr11:23587000-23591200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:23588400-23593400	Enhancers	Dnd41	blood
26	chr11:23590600-23591400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:23590600-23593200	Enhancers	HUVEC	blood vessel
28	chr11:23590800-23592000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:23591200-23591600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:23591600-23595000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:23591800-23593000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:23591800-23593400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr11:23592000-23593000	Enhancers	Osteobl	bone
34	chr11:23592400-23593400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:23592800-23593200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:23593000-23594600	Weak transcription	Osteobl	bone
37	chr11:23593400-23594600	Weak transcription	Dnd41	blood
38	chr11:23594600-23595400	Enhancers	Dnd41	blood
39	chr11:23594800-23595000	Enhancers	Osteobl	bone
40	chr11:23594800-23595200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr11:23595000-23595200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:23595200-23595600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:23595400-23600600	Weak transcription	Dnd41	blood
44	chr11:23595600-23596000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:23600600-23601600	Enhancers	Dnd41	blood
46	chr11:23605200-23605400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr11:23605400-23610400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:23606200-23609000	Enhancers	Colon Smooth Muscle	Colon
49	chr11:23606800-23608800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:23607000-23607400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links