Variant report

Variant	nsv975170
Chromosome Location	chr11:45591890-45597129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45546554..45548797-chr11:45591196..45594096,2	K562	blood:
2	chr11:45590756..45592478-chr11:45595501..45597131,2	K562	blood:
3	chr11:45594961..45596588-chr11:45612673..45615496,2	K562	blood:
4	chr11:45590756..45592478-chr11:45595501..45597131,2	K562	blood:

Extended variants
information (count: 178 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:178 , 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	rs181323441	chr11:45591899-45591900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138050363	chr11:45591919-45591920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61882911	chr11:45591931-45591932	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537140201	chr11:45591932-45591933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369711028	chr11:45592045-45592046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533441078	chr11:45592054-45592055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149500656	chr11:45592080-45592081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545432511	chr11:45592129-45592130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550292647	chr11:45592130-45592131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562100291	chr11:45592222-45592223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374004884	chr11:45592250-45592251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200575297	chr11:45592252-45592253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548236426	chr11:45592267-45592268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568048324	chr11:45592284-45592285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527509332	chr11:45592340-45592341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144150269	chr11:45592367-45592368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547611265	chr11:45592394-45592395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536417649	chr11:45592412-45592413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570802128	chr11:45592437-45592438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553168218	chr11:45592497-45592498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377666284	chr11:45592505-45592506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573444865	chr11:45592521-45592522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570005485	chr11:45592549-45592550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535592211	chr11:45592585-45592586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34930572	chr11:45592604-45592605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371200730	chr11:45592618-45592619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572424972	chr11:45592649-45592650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541273407	chr11:45592656-45592657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371298285	chr11:45592670-45592671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557919143	chr11:45592698-45592699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529323857	chr11:45592704-45592705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543682862	chr11:45592750-45592751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368203307	chr11:45592828-45592829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562362971	chr11:45592863-45592864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538969572	chr11:45592877-45592878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558910840	chr11:45592964-45592965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575590358	chr11:45593010-45593011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541439994	chr11:45593057-45593058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561868164	chr11:45593079-45593080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527386421	chr11:45593081-45593082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547624104	chr11:45593085-45593086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186706697	chr11:45593136-45593137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533287016	chr11:45593244-45593245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550065309	chr11:45593260-45593261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191089794	chr11:45593276-45593277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375644986	chr11:45593307-45593308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs118016768	chr11:45593326-45593327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555472044	chr11:45593365-45593366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148677662	chr11:45593372-45593373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534753132	chr11:45593375-45593376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45585800-45598000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:45590400-45592200	Enhancers	Fetal Brain Male	brain
3	chr11:45590800-45592600	Weak transcription	Spleen	Spleen
4	chr11:45591600-45592000	Enhancers	Fetal Muscle Trunk	muscle
5	chr11:45591600-45598800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:45592000-45593000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:45592600-45592800	Enhancers	Spleen	Spleen
8	chr11:45596000-45596200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:45596000-45596200	Enhancers	Brain Germinal Matrix	brain
10	chr11:45596200-45596800	Weak transcription	Brain Germinal Matrix	brain
11	chr11:45596400-45596800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:45596600-45596800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr11:45596800-45597000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:45596800-45597000	Enhancers	Brain Germinal Matrix	brain
15	chr11:45596800-45598400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:45597000-45597800	Weak transcription	Brain Germinal Matrix	brain

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