Variant report

Variant	nsv983001
Chromosome Location	chr11:34341904-34346211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34340373..34342036-chr11:34343616..34346378,2	MCF-7	breast:
2	chr11:34342106..34344369-chr11:34352747..34354682,2	MCF-7	breast:
3	chr11:34345532..34347558-chr11:34378083..34380807,2	MCF-7	breast:
4	chr11:34330140..34331933-chr11:34345300..34347720,2	K562	blood:
5	chr11:34345030..34348316-chr11:34348388..34351447,3	K562	blood:
6	chr11:34340373..34342036-chr11:34343616..34346378,2	MCF-7	breast:
7	chr11:34340006..34344767-chr11:34350658..34354959,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166016	chromatin interactions

Extended variants
information (count: 166 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558804541	chr11:34341921-34341922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572697728	chr11:34342020-34342021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541409163	chr11:34342043-34342044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554629080	chr11:34342108-34342109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574779926	chr11:34342120-34342121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186295646	chr11:34342148-34342149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191222197	chr11:34342150-34342151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563789422	chr11:34342187-34342188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563518239	chr11:34342198-34342199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531519280	chr11:34342213-34342214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545251184	chr11:34342214-34342215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565181648	chr11:34342239-34342240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527629449	chr11:34342241-34342242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111697993	chr11:34342268-34342269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567101783	chr11:34342281-34342282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529659354	chr11:34342284-34342285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549430060	chr11:34342300-34342301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369485460	chr11:34342325-34342326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569444589	chr11:34342333-34342334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538846462	chr11:34342337-34342338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115628841	chr11:34342339-34342340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552147164	chr11:34342346-34342347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187635529	chr11:34342356-34342357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530540572	chr11:34342359-34342360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555266745	chr11:34342368-34342369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191340725	chr11:34342426-34342427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537478371	chr11:34342439-34342440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557467418	chr11:34342467-34342468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182855765	chr11:34342500-34342501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545214400	chr11:34342527-34342528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564889921	chr11:34342528-34342529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572206848	chr11:34342554-34342555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375245712	chr11:34342556-34342557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540937687	chr11:34342622-34342623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188326510	chr11:34342643-34342644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531813585	chr11:34342660-34342661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542927282	chr11:34342666-34342667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563806534	chr11:34342731-34342732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371563626	chr11:34342747-34342748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs202158760	chr11:34342750-34342751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549970871	chr11:34342752-34342753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529625329	chr11:34342766-34342767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549414049	chr11:34342775-34342776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11032613	chr11:34342785-34342786	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs79677179	chr11:34342869-34342870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552255906	chr11:34342914-34342915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12225780	chr11:34342917-34342918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535251780	chr11:34342945-34342946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554021834	chr11:34342962-34342963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369261583	chr11:34342981-34342982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34332800-34346200	Weak transcription	Lung	lung
2	chr11:34335800-34342200	Enhancers	Liver	Liver
3	chr11:34336200-34358200	Weak transcription	Thymus	Thymus
4	chr11:34337600-34342400	Enhancers	HepG2	liver
5	chr11:34337800-34349000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:34338600-34344200	Weak transcription	Fetal Stomach	stomach
7	chr11:34339000-34343600	Weak transcription	Ovary	ovary
8	chr11:34339000-34345800	Weak transcription	Brain Substantia Nigra	brain
9	chr11:34339000-34349000	Weak transcription	Brain Anterior Caudate	brain
10	chr11:34339000-34357400	Weak transcription	Fetal Thymus	thymus
11	chr11:34339200-34345800	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:34339800-34342200	Enhancers	Psoas Muscle	Psoas
13	chr11:34339800-34342400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:34340000-34353200	Weak transcription	Small Intestine	intestine
15	chr11:34340200-34346000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:34340600-34349200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:34340800-34343200	Weak transcription	Placenta	Placenta
18	chr11:34340800-34344800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:34340800-34345000	Weak transcription	NHDF-Ad	bronchial
20	chr11:34340800-34349000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:34340800-34352200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:34341000-34342000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:34341000-34343000	Weak transcription	Right Ventricle	heart
24	chr11:34341000-34344200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:34341000-34345800	Weak transcription	Right Atrium	heart
26	chr11:34341000-34345800	Weak transcription	HSMMtube	muscle
27	chr11:34341000-34346000	Weak transcription	Aorta	Aorta
28	chr11:34341000-34348600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:34341000-34348800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:34341000-34349000	Weak transcription	Pancreas	Pancrea
31	chr11:34341000-34352400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:34341200-34343000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:34341200-34343800	Enhancers	A549	lung
34	chr11:34341200-34345000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:34341200-34348400	Weak transcription	Left Ventricle	heart
36	chr11:34341200-34352200	Weak transcription	HSMM	muscle
37	chr11:34341600-34342400	Enhancers	Fetal Muscle Leg	muscle
38	chr11:34341800-34342200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr11:34341800-34342400	Enhancers	Fetal Kidney	kidney
40	chr11:34342000-34342400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:34342200-34344800	Weak transcription	Liver	Liver
42	chr11:34342200-34345600	Weak transcription	Psoas Muscle	Psoas
43	chr11:34342400-34345000	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:34342400-34345000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:34342400-34345000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:34343000-34343600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:34343000-34343600	Enhancers	Right Ventricle	heart
48	chr11:34343200-34343600	Enhancers	Placenta	Placenta
49	chr11:34343600-34344400	Weak transcription	Placenta	Placenta
50	chr11:34343600-34344800	Enhancers	Ovary	ovary

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