Variant report

Variant	nsv976466
Chromosome Location	chr11:24703531-24708218
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 219 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528144282	chr11:24703539-24703540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139691101	chr11:24703551-24703552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564682285	chr11:24703604-24703605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144725377	chr11:24703620-24703621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116032271	chr11:24703644-24703645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570112462	chr11:24703653-24703654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535852932	chr11:24703676-24703677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73437104	chr11:24703677-24703678	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs555607150	chr11:24703725-24703726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7395763	chr11:24703751-24703752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs7952079	chr11:24703756-24703757	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557694479	chr11:24703795-24703796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577751214	chr11:24703813-24703814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187636164	chr11:24703870-24703871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556831557	chr11:24703898-24703899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573561146	chr11:24703904-24703905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193246565	chr11:24703908-24703909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532800412	chr11:24703917-24703918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184086052	chr11:24703933-24703934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7394676	chr11:24703934-24703935	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7394678	chr11:24703939-24703940	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533568509	chr11:24704032-24704033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7396077	chr11:24704033-24704034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528354724	chr11:24704042-24704043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563980422	chr11:24704052-24704053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142862807	chr11:24704053-24704054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530224322	chr11:24704069-24704070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74984908	chr11:24704074-24704075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs118067490	chr11:24704077-24704078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575477106	chr11:24704085-24704086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199627525	chr11:24704091-24704092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566056623	chr11:24704094-24704095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535003085	chr11:24704120-24704121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375839767	chr11:24704121-24704122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140676327	chr11:24704131-24704132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371588859	chr11:24704132-24704133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374664096	chr11:24704137-24704138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367589250	chr11:24704138-24704139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371674587	chr11:24704140-24704141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375055469	chr11:24704142-24704143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368133009	chr11:24704144-24704145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12575435	chr11:24704145-24704146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144380164	chr11:24704152-24704153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372348334	chr11:24704153-24704154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12574308	chr11:24704154-24704155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376572819	chr11:24704157-24704158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371555768	chr11:24704163-24704164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556706715	chr11:24704165-24704166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs202193598	chr11:24704170-24704171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200022403	chr11:24704173-24704174	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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24700600-24710400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr11:24700800-24705000	Weak transcription	Hela-S3	cervix
3	chr11:24702200-24704000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr11:24702200-24705200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:24702200-24705200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:24702200-24709200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:24702400-24703600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:24703600-24704200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:24704000-24709600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:24704200-24704600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:24704600-24704800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:24704800-24709400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:24705000-24706600	Enhancers	Hela-S3	cervix
14	chr11:24705200-24705600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr11:24705200-24706200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:24705600-24709200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:24706200-24709200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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