Variant report

Variant	nsv983013
Chromosome Location	chr11:49186292-49187522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370741711	chr11:49186293-49186294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139716793	chr11:49186294-49186295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201724751	chr11:49186320-49186321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189910041	chr11:49186463-49186464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532365277	chr11:49186470-49186471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181683659	chr11:49186505-49186506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72906387	chr11:49186509-49186510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72906389	chr11:49186520-49186521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61886493	chr11:49186590-49186591	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs61886494	chr11:49186653-49186654	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs186214520	chr11:49186675-49186676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61886495	chr11:49186681-49186682	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189460722	chr11:49186686-49186687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548181413	chr11:49186714-49186715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140236049	chr11:49186715-49186716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182060389	chr11:49186749-49186750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186441958	chr11:49186750-49186751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540222888	chr11:49186756-49186757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190663830	chr11:49186777-49186778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577074688	chr11:49186791-49186792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546197850	chr11:49186822-49186823	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563062079	chr11:49186843-49186844	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531793448	chr11:49186867-49186868	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199795905	chr11:49186883-49186884	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114348330	chr11:49186898-49186899	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561759907	chr11:49186910-49186911	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527394715	chr11:49186934-49186935	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547372203	chr11:49186935-49186936	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11040278	chr11:49186956-49186957	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570485494	chr11:49186995-49186996	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72906391	chr11:49187004-49187005	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539685752	chr11:49187021-49187022	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372396440	chr11:49187045-49187046	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549792855	chr11:49187051-49187052	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569961246	chr11:49187064-49187065	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558666463	chr11:49187094-49187095	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112536928	chr11:49187115-49187116	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535288750	chr11:49187147-49187148	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182898389	chr11:49187171-49187172	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202673	chr11:49187179-49187180	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs534029305	chr11:49187214-49187215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553720606	chr11:49187271-49187272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7113251	chr11:49187284-49187285	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570956230	chr11:49187291-49187292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546210571	chr11:49187296-49187297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556578277	chr11:49187308-49187309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576715541	chr11:49187317-49187318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542019995	chr11:49187323-49187324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562270731	chr11:49187344-49187345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145659505	chr11:49187362-49187363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49171400-49197600	Weak transcription	Brain Substantia Nigra	brain
2	chr11:49171600-49190800	Weak transcription	Small Intestine	intestine
3	chr11:49176200-49186800	Weak transcription	Ovary	ovary
4	chr11:49183400-49190000	Strong transcription	Fetal Intestine Large	intestine
5	chr11:49183800-49186800	Strong transcription	Duodenum Mucosa	Duodenum
6	chr11:49184200-49193400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:49184400-49186800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:49184800-49208400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:49185600-49188200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:49185600-49189000	Weak transcription	Fetal Intestine Small	intestine
11	chr11:49185600-49190600	Weak transcription	Fetal Stomach	stomach
12	chr11:49185600-49194000	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:49185600-49201800	Weak transcription	Fetal Lung	lung
14	chr11:49186200-49195600	Weak transcription	Liver	Liver
15	chr11:49186800-49187200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:49186800-49204200	Weak transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links