Variant report

Variant	nsv553877
Chromosome Location	chr11:25688809-25720706
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:25689568..25691114-chr11:25691280..25694068,2	K562	blood:
2	chr11:25619794..25621822-chr11:25698109..25699950,2	K562	blood:
3	chr11:25689568..25691114-chr11:25691280..25694068,2	K562	blood:
4	chr11:25709860..25710784-chr18:64774033..64774666,2	MCF-7	breast:

Extended variants
information (count: 980 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:980 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11607275	chr11:25688809-25688810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538213446	chr11:25688820-25688821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11028837	chr11:25688821-25688822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565760829	chr11:25688855-25688856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571163712	chr11:25688884-25688885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7940517	chr11:25688890-25688891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192776344	chr11:25688893-25688894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576276225	chr11:25688916-25688917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537253829	chr11:25688920-25688921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183531462	chr11:25688934-25688935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142697959	chr11:25688936-25688937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11828009	chr11:25688954-25688955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150598906	chr11:25688961-25688962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11028838	chr11:25689001-25689002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574576416	chr11:25689005-25689006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569015498	chr11:25689070-25689071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374500067	chr11:25689143-25689144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116670650	chr11:25689150-25689151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563461254	chr11:25689160-25689161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375190773	chr11:25689235-25689236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138025117	chr11:25689236-25689237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112714665	chr11:25689248-25689249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs16914335	chr11:25689277-25689278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs72877024	chr11:25689297-25689298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs116529483	chr11:25689306-25689307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565648658	chr11:25689333-25689334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536274753	chr11:25689345-25689346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115825036	chr11:25689348-25689349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116911179	chr11:25689353-25689354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558761730	chr11:25689363-25689364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577039685	chr11:25689416-25689417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192346651	chr11:25689443-25689444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552863857	chr11:25689455-25689456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574461878	chr11:25689460-25689461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562968866	chr11:25689466-25689467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541822415	chr11:25689492-25689493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184687091	chr11:25689498-25689499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144348149	chr11:25689519-25689520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148760401	chr11:25689524-25689525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370085376	chr11:25689572-25689573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564738712	chr11:25689578-25689579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7951170	chr11:25689587-25689588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547289558	chr11:25689631-25689632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190387647	chr11:25689646-25689647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529674388	chr11:25689651-25689652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12287899	chr11:25689661-25689662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192868588	chr11:25689703-25689704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184986982	chr11:25689766-25689767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146984971	chr11:25689818-25689819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141593094	chr11:25689831-25689832	Weak transcription Enhancers	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
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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25686000-25691600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:25688600-25689800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:25689800-25690000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:25690000-25691200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:25690200-25690600	Enhancers	Ovary	ovary
6	chr11:25691600-25691800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:25697400-25698000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:25698000-25698800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:25698800-25702200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:25702200-25703600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:25702800-25703600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:25703000-25703400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr11:25703600-25716200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:25705200-25705600	Enhancers	Fetal Brain Male	brain
15	chr11:25713000-25713400	Enhancers	Brain Germinal Matrix	brain
16	chr11:25716200-25718200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:25718200-25718800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:25718400-25718800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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