Variant report

Variant	nsv467776
Chromosome Location	chr11:25951319-25979162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1241 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1241 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1441484	chr11:25951319-25951320	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111927098	chr11:25951322-25951323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546172187	chr11:25951334-25951335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112823943	chr11:25951348-25951349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58977109	chr11:25951365-25951366	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs183213095	chr11:25951370-25951371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1441485	chr11:25951385-25951386	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535278886	chr11:25951421-25951422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187542452	chr11:25951527-25951528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192314447	chr11:25951546-25951547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139971583	chr11:25951597-25951598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562682090	chr11:25951638-25951639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149783021	chr11:25951640-25951641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145707891	chr11:25951644-25951645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10834855	chr11:25951648-25951649	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs568463148	chr11:25951658-25951659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533344117	chr11:25951687-25951688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554562521	chr11:25951704-25951705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569519616	chr11:25951705-25951706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537162784	chr11:25951706-25951707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558401709	chr11:25951716-25951717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148495860	chr11:25951737-25951738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534860526	chr11:25951815-25951816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78305332	chr11:25951824-25951825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185160359	chr11:25951827-25951828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189957891	chr11:25951852-25951853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563724241	chr11:25951865-25951866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192661168	chr11:25951868-25951869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546163639	chr11:25951897-25951898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368990504	chr11:25951901-25951902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564270533	chr11:25951904-25951905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528554632	chr11:25951906-25951907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12803523	chr11:25951917-25951918	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561897417	chr11:25951936-25951937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529596935	chr11:25951944-25951945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12804760	chr11:25952005-25952006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534496850	chr11:25952056-25952057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145460910	chr11:25952131-25952132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545047394	chr11:25952229-25952230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552143449	chr11:25952297-25952298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552590659	chr11:25952302-25952303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535429093	chr11:25952312-25952313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188048856	chr11:25952347-25952348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181894004	chr11:25952355-25952356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570130058	chr11:25952362-25952363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75662271	chr11:25952409-25952410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556031104	chr11:25952482-25952483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147685196	chr11:25952487-25952488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149329595	chr11:25952506-25952507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553214091	chr11:25952507-25952508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25949400-25951600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr11:25950800-25955000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:25951000-25959000	Weak transcription	Fetal Lung	lung
4	chr11:25951200-25951800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:25951400-25951800	Enhancers	Fetal Muscle Leg	muscle
6	chr11:25951600-25952000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:25955200-25955400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr11:25958800-25960800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:25959000-25959400	Enhancers	Fetal Lung	lung
10	chr11:25960000-25960200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:25960000-25961000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr11:25960200-25960800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:25960200-25961200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:25960400-25961400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr11:25960600-25962800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:25960800-25961000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:25960800-25961200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:25960800-25961600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr11:25960800-25961600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:25961000-25968000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:25961000-25972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:25961200-25968200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:25961400-25963200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:25961600-25972800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:25962800-25963200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:25963000-25963200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:25963200-25963600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:25963200-25979200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:25965200-25966000	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr11:25965400-25965800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:25965400-25966000	Active TSS	Colonic Mucosa	Colon
32	chr11:25965400-25966000	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr11:25965600-25966000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:25965800-25966200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:25966200-25974000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:25966400-25967400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr11:25967400-25967800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:25967400-25967800	Enhancers	Fetal Brain Male	brain
39	chr11:25967800-25968400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr11:25968000-25968800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr11:25968200-25968400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr11:25968200-25968600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr11:25968200-25968800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr11:25968200-25968800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr11:25968400-25968800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:25968800-25972800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:25972800-25973000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:25972800-25973200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:25972800-25973200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:25973000-25973600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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