Variant report

Variant	nsv972007
Chromosome Location	chr11:46976471-46985683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46969609..46972208-chr11:46975485..46977882,2	MCF-7	breast:
2	chr11:46969116..46970652-chr11:46978768..46980520,2	K562	blood:
3	chr11:46983981..46985605-chr11:46987399..46989528,2	K562	blood:

Extended variants
information (count: 275 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537309557	chr11:46976483-46976484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557856602	chr11:46976570-46976571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578005064	chr11:46976602-46976603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61899281	chr11:46976621-46976622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367856982	chr11:46976689-46976690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184757113	chr11:46976778-46976779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187690997	chr11:46976799-46976800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12225798	chr11:46976803-46976804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112597229	chr11:46976826-46976827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10838638	chr11:46976861-46976862	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs193185313	chr11:46976906-46976907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534655506	chr11:46976913-46976914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148659946	chr11:46976920-46976921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570201442	chr11:46976921-46976922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527597860	chr11:46976925-46976926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76270928	chr11:46976934-46976935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370324476	chr11:46976941-46976942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563901880	chr11:46976947-46976948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139078683	chr11:46977001-46977002	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11039039	chr11:46977026-46977027	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571162680	chr11:46977063-46977064	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569738768	chr11:46977067-46977068	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535627901	chr11:46977116-46977117	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549183354	chr11:46977143-46977144	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71474196	chr11:46977160-46977161	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs370257807	chr11:46977189-46977190	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558476359	chr11:46977260-46977261	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11039040	chr11:46977267-46977268	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577948356	chr11:46977268-46977269	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185171010	chr11:46977269-46977270	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537461771	chr11:46977292-46977293	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557114027	chr11:46977330-46977331	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557128849	chr11:46977360-46977361	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574203379	chr11:46977364-46977365	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542009602	chr11:46977399-46977400	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561847652	chr11:46977406-46977407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61899282	chr11:46977408-46977409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs540962285	chr11:46977409-46977410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377113725	chr11:46977540-46977541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369558731	chr11:46977544-46977545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564442525	chr11:46977550-46977551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187951703	chr11:46977551-46977552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532747853	chr11:46977603-46977604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542728906	chr11:46977661-46977662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549772971	chr11:46977693-46977694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4084459	chr11:46977695-46977696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528942151	chr11:46977728-46977729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548698065	chr11:46977740-46977741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565931628	chr11:46977772-46977773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535263020	chr11:46977836-46977837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46959000-46977000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:46959000-46980000	Weak transcription	Aorta	Aorta
3	chr11:46959000-46980000	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:46959000-46980000	Weak transcription	Ovary	ovary
5	chr11:46959000-46980200	Weak transcription	Primary B cells from cord blood	blood
6	chr11:46959000-46980200	Weak transcription	Gastric	stomach
7	chr11:46959000-46980200	Weak transcription	Lung	lung
8	chr11:46959000-46980200	Weak transcription	Thymus	Thymus
9	chr11:46959000-46981000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:46959000-46982200	Weak transcription	Fetal Kidney	kidney
11	chr11:46959000-46982400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:46959000-46982600	Weak transcription	Fetal Thymus	thymus
13	chr11:46959000-46998600	Weak transcription	Left Ventricle	heart
14	chr11:46959200-46980200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:46959200-46980200	Weak transcription	Dnd41	blood
16	chr11:46959200-46985000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:46959200-46990600	Weak transcription	Brain Angular Gyrus	brain
18	chr11:46959200-46990600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:46959200-46993800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:46959600-46978800	Weak transcription	Fetal Brain Male	brain
21	chr11:46959600-46980000	Weak transcription	Fetal Brain Female	brain
22	chr11:46965200-46984600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:46967200-46978800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:46969000-46980200	Weak transcription	Fetal Lung	lung
25	chr11:46969400-46980000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:46969400-46980200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:46969800-46980000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:46970000-46977000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:46970200-46980000	Weak transcription	Fetal Stomach	stomach
30	chr11:46970200-46983400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:46970400-46976800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:46970400-46980200	Weak transcription	HSMMtube	muscle
33	chr11:46970600-46980000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:46970600-46980200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:46970600-46980200	Weak transcription	HSMM	muscle
36	chr11:46970600-46993200	Weak transcription	Small Intestine	intestine
37	chr11:46970800-46980600	Weak transcription	A549	lung
38	chr11:46971000-46980000	Weak transcription	Fetal Intestine Large	intestine
39	chr11:46971000-46992400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:46971200-46980200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr11:46971600-46980200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr11:46971600-46995600	Weak transcription	Pancreas	Pancrea
43	chr11:46971600-47006600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:46974000-46980200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:46974000-46980200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:46974000-46981600	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:46974000-46989600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:46974200-46976800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:46974200-46980000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:46974200-46980000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links