Variant report

Variant	nsv8789
Chromosome Location	chr11:10263385-10275029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10254716..10258095-chr11:10261173..10265097,3	K562	blood:
2	chr11:10265565..10267259-chr11:10314808..10317263,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133812	chromatin interactions

Extended variants
information (count: 438 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56258463	chr11:10263451-10263452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571455182	chr11:10263524-10263525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs55933041	chr11:10263554-10263555	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs553795552	chr11:10263561-10263562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60257731	chr11:10263563-10263564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376930246	chr11:10263580-10263581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535483368	chr11:10263602-10263603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555726922	chr11:10263622-10263623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575374020	chr11:10263674-10263675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116713576	chr11:10263733-10263734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557956448	chr11:10263737-10263738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186103227	chr11:10263747-10263748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540786354	chr11:10263748-10263749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560631500	chr11:10263765-10263766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529545234	chr11:10263770-10263771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542306772	chr11:10263788-10263789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562459881	chr11:10263850-10263851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117898318	chr11:10263856-10263857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551483257	chr11:10263910-10263911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372532444	chr11:10263951-10263952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534696670	chr11:10263959-10263960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571327697	chr11:10264029-10264030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78010579	chr11:10264057-10264058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573840343	chr11:10264075-10264076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190906897	chr11:10264084-10264085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11042686	chr11:10264122-10264123	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs536536717	chr11:10264127-10264128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530454770	chr11:10264144-10264145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568888728	chr11:10264195-10264196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs55879783	chr11:10264210-10264211	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142280015	chr11:10264228-10264229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114552646	chr11:10264239-10264240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138493632	chr11:10264329-10264330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577675708	chr11:10264432-10264433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540474099	chr11:10264436-10264437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554341991	chr11:10264465-10264466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574295754	chr11:10264495-10264496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145932581	chr11:10264501-10264502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557050199	chr11:10264553-10264554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562498145	chr11:10264621-10264622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564075115	chr11:10264656-10264657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375626528	chr11:10264684-10264685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182108493	chr11:10264717-10264718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368422651	chr11:10264724-10264725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186011340	chr11:10264776-10264777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527374970	chr11:10264777-10264778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547315107	chr11:10264801-10264802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561119474	chr11:10264842-10264843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529970945	chr11:10264881-10264882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11824082	chr11:10264904-10264905	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
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
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10235400-10263400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:10252200-10264200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:10253000-10268200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:10254000-10263400	Weak transcription	Ovary	ovary
5	chr11:10254000-10276200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:10254400-10277400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:10254600-10265800	Weak transcription	Fetal Lung	lung
8	chr11:10254600-10268800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:10255600-10268400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:10255600-10268400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:10255600-10268400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:10255600-10277200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:10255600-10279000	Weak transcription	Small Intestine	intestine
14	chr11:10255800-10266200	Weak transcription	Osteobl	bone
15	chr11:10255800-10268400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:10255800-10277400	Weak transcription	HSMM	muscle
17	chr11:10256000-10265600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:10256000-10270800	Weak transcription	NH-A	brain
19	chr11:10256400-10268400	Weak transcription	NHLF	lung
20	chr11:10256600-10263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:10256600-10269600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:10257800-10266400	Weak transcription	Fetal Stomach	stomach
23	chr11:10257800-10269000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:10258000-10266400	Weak transcription	Fetal Intestine Small	intestine
25	chr11:10259000-10263400	Weak transcription	Adipose Nuclei	Adipose
26	chr11:10259000-10266400	Weak transcription	Right Ventricle	heart
27	chr11:10259000-10268400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:10259200-10266400	Weak transcription	Aorta	Aorta
29	chr11:10259200-10280200	Weak transcription	A549	lung
30	chr11:10259400-10268200	Weak transcription	Lung	lung
31	chr11:10260000-10263400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:10260000-10266400	Weak transcription	Gastric	stomach
33	chr11:10260000-10266400	Weak transcription	Left Ventricle	heart
34	chr11:10260000-10267800	Weak transcription	Esophagus	oesophagus
35	chr11:10260200-10264200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:10260200-10266400	Weak transcription	Pancreas	Pancrea
37	chr11:10261800-10268600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:10262000-10263400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:10262200-10263400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:10262200-10264000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:10262200-10264000	Weak transcription	NHEK	skin
42	chr11:10262200-10267400	Weak transcription	Hela-S3	cervix
43	chr11:10262200-10268200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:10262400-10271800	Weak transcription	NHDF-Ad	bronchial
45	chr11:10263400-10263600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:10263400-10263600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:10263400-10263800	Enhancers	Ovary	ovary
48	chr11:10263400-10264200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr11:10263400-10264200	Enhancers	Rectal Smooth Muscle	rectum
50	chr11:10263400-10264400	Enhancers	Adipose Nuclei	Adipose

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