Variant report

Variant	nsv975882
Chromosome Location	chr11:10671502-10672865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10669554..10672277-chr11:10684119..10685938,2	MCF-7	breast:
2	chr11:10661837..10665351-chr11:10668716..10672933,3	K562	blood:
3	chr11:10560102..10563921-chr11:10672313..10677222,4	MCF-7	breast:
4	chr11:10662421..10664986-chr11:10669210..10672158,2	K562	blood:

Variant related genes	Relation type
ENSG00000110315	chromatin interactions
ENSG00000177112	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575480744	chr11:10671543-10671544	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374187448	chr11:10671577-10671578	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557467634	chr11:10671594-10671595	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190600239	chr11:10671609-10671610	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547565221	chr11:10671612-10671613	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539808280	chr11:10671618-10671619	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12295574	chr11:10671667-10671668	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547601258	chr11:10671741-10671742	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139765505	chr11:10671845-10671846	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567435749	chr11:10671849-10671850	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529126789	chr11:10671903-10671904	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530156520	chr11:10671926-10671927	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542952941	chr11:10671942-10671943	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149810602	chr11:10671973-10671974	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549912134	chr11:10672008-10672009	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58755439	chr11:10672020-10672021	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569206911	chr11:10672023-10672024	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79671813	chr11:10672033-10672034	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183177238	chr11:10672043-10672044	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141786892	chr11:10672047-10672048	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554697124	chr11:10672058-10672059	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4910164	chr11:10672097-10672098	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs538522545	chr11:10672118-10672119	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369397380	chr11:10672123-10672124	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145632998	chr11:10672210-10672211	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573249278	chr11:10672211-10672212	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566863808	chr11:10672214-10672215	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535772215	chr11:10672227-10672228	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549687792	chr11:10672232-10672233	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549693329	chr11:10672235-10672236	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569096001	chr11:10672271-10672272	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141082283	chr11:10672286-10672287	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115123004	chr11:10672316-10672317	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs577275008	chr11:10672370-10672371	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs533899001	chr11:10672384-10672385	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs553481768	chr11:10672395-10672396	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs573629347	chr11:10672405-10672406	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs565325180	chr11:10672412-10672413	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs562805379	chr11:10672427-10672428	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs576420442	chr11:10672475-10672476	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs186417383	chr11:10672476-10672477	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs565076488	chr11:10672477-10672478	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533228380	chr11:10672514-10672515	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs374691335	chr11:10672517-10672518	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs7935285	chr11:10672518-10672519	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560280926	chr11:10672566-10672567	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs143441101	chr11:10672585-10672586	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs549247010	chr11:10672586-10672587	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs189692106	chr11:10672601-10672602	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs182614165	chr11:10672604-10672605	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Neuroblastoma	18923524	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10646000-10679000	Weak transcription	Fetal Lung	lung
2	chr11:10646200-10679200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:10650400-10678600	Weak transcription	Right Ventricle	heart
4	chr11:10658800-10676600	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:10661200-10673600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:10662400-10672000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:10664200-10672000	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:10664200-10678800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:10664400-10675000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:10665600-10672200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:10666400-10671800	Genic enhancers	Stomach Smooth Muscle	stomach
12	chr11:10668200-10673200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:10668200-10673400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:10668400-10671600	Genic enhancers	Colon Smooth Muscle	Colon
15	chr11:10668400-10672200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:10668400-10673200	Weak transcription	Left Ventricle	heart
17	chr11:10668400-10673800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:10668600-10672600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:10668600-10673400	Weak transcription	Spleen	Spleen
20	chr11:10668600-10674200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:10668600-10674400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:10668800-10672000	Weak transcription	Brain Angular Gyrus	brain
23	chr11:10668800-10673400	Weak transcription	Esophagus	oesophagus
24	chr11:10668800-10674200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:10669200-10672000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:10669200-10673400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:10669400-10672000	Weak transcription	Brain Substantia Nigra	brain
28	chr11:10669400-10672000	Weak transcription	NHLF	lung
29	chr11:10669400-10673200	Weak transcription	Lung	lung
30	chr11:10669400-10673200	Weak transcription	NH-A	brain
31	chr11:10669400-10674400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:10669600-10673400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:10669600-10675600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:10669600-10676800	Weak transcription	Fetal Intestine Large	intestine
35	chr11:10670200-10671600	Enhancers	NHDF-Ad	bronchial
36	chr11:10670200-10674600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr11:10670200-10675000	Weak transcription	K562	blood
38	chr11:10670400-10675400	Genic enhancers	Fetal Stomach	stomach
39	chr11:10670600-10672200	Enhancers	Primary B cells from cord blood	blood
40	chr11:10670800-10672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:10670800-10672200	Enhancers	HSMMtube	muscle
42	chr11:10670800-10673200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:10670800-10673400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:10670800-10673400	Weak transcription	Right Atrium	heart
45	chr11:10670800-10675000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:10670800-10676400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:10671000-10673400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:10671000-10676200	Weak transcription	A549	lung
49	chr11:10671200-10672000	Weak transcription	Placenta	Placenta
50	chr11:10671200-10673400	Weak transcription	Ovary	ovary

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