Variant report

Variant	nsv553911
Chromosome Location	chr11:26850692-26905496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:26888014..26890689-chr11:26892036..26894261,2	MCF-7	breast:
2	chr11:26887994..26889621-chr11:26891760..26893586,2	K562	blood:
3	chr11:26872205..26875117-chr11:26880752..26883354,2	K562	blood:
4	chr11:26887994..26889621-chr11:26891760..26893586,2	K562	blood:
5	chr11:26888014..26890689-chr11:26892036..26894261,2	MCF-7	breast:
6	chr11:26872205..26875117-chr11:26880752..26883354,2	K562	blood:

Extended variants
information (count: 1753 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:1753 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2060651	chr11:26850692-26850693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574444990	chr11:26850721-26850722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535460219	chr11:26850734-26850735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73440571	chr11:26850748-26850749	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs374833755	chr11:26850838-26850839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547250330	chr11:26850939-26850940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142748791	chr11:26850942-26850943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574423934	chr11:26850943-26850944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147381698	chr11:26850997-26850998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573117985	chr11:26851019-26851020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540426618	chr11:26851118-26851119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs992123	chr11:26851129-26851130	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557872990	chr11:26851138-26851139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529356974	chr11:26851165-26851166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551015932	chr11:26851180-26851181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531184642	chr11:26851215-26851216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549793541	chr11:26851260-26851261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72888604	chr11:26851330-26851331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183437574	chr11:26851331-26851332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76378018	chr11:26851372-26851373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373039266	chr11:26851376-26851377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116483895	chr11:26851394-26851395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186810034	chr11:26851427-26851428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568181962	chr11:26851488-26851489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17243713	chr11:26851499-26851500	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190260021	chr11:26851502-26851503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377667007	chr11:26851510-26851511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568771344	chr11:26851512-26851513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537152902	chr11:26851538-26851539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186042457	chr11:26855004-26855005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34825083	chr11:26855038-26855039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559601718	chr11:26855068-26855069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368204089	chr11:26855069-26855070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554285381	chr11:26855070-26855071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138787850	chr11:26855110-26855111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117564803	chr11:26855111-26855112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540028147	chr11:26855114-26855115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532288124	chr11:26855121-26855122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34541995	chr11:26855143-26855144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75616045	chr11:26855150-26855151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77258154	chr11:26855156-26855157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150738115	chr11:26855228-26855229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548707236	chr11:26855230-26855231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs137991556	chr11:26855245-26855246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149493178	chr11:26855250-26855251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190403321	chr11:26855260-26855261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570826745	chr11:26855279-26855280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181298927	chr11:26855302-26855303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376052756	chr11:26855303-26855304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367848712	chr11:26855331-26855332	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
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
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
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26849000-26851200	Enhancers	Rectal Smooth Muscle	rectum
2	chr11:26850200-26851400	Weak transcription	Fetal Stomach	stomach
3	chr11:26851400-26851600	Enhancers	Fetal Stomach	stomach
4	chr11:26855000-26855600	Enhancers	Fetal Brain Male	brain
5	chr11:26855000-26856000	Enhancers	Adipose Nuclei	Adipose
6	chr11:26855200-26856000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:26855600-26857800	Weak transcription	Fetal Brain Male	brain
8	chr11:26856000-26857200	Weak transcription	Adipose Nuclei	Adipose
9	chr11:26857200-26858000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:26857600-26858000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:26857800-26858200	Enhancers	Fetal Brain Male	brain
12	chr11:26858600-26862600	Weak transcription	HSMM	muscle
13	chr11:26860400-26861600	Weak transcription	Adipose Nuclei	Adipose
14	chr11:26861000-26863200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:26861200-26864200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:26861400-26861800	Enhancers	Fetal Kidney	kidney
17	chr11:26861600-26861800	Enhancers	NHDF-Ad	bronchial
18	chr11:26861600-26861800	Enhancers	NHLF	lung
19	chr11:26861600-26862000	Enhancers	Adipose Nuclei	Adipose
20	chr11:26861600-26862200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:26861600-26862400	Enhancers	Psoas Muscle	Psoas
22	chr11:26861600-26862400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:26861600-26862800	Enhancers	Aorta	Aorta
24	chr11:26861600-26863200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:26861600-26863800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:26861600-26865000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:26861600-26865000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:26861800-26862400	Weak transcription	NHDF-Ad	bronchial
29	chr11:26861800-26863800	Weak transcription	NHLF	lung
30	chr11:26861800-26864200	Enhancers	Fetal Stomach	stomach
31	chr11:26861800-26870600	Weak transcription	Fetal Kidney	kidney
32	chr11:26862000-26862200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:26862000-26863600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:26862000-26863800	Weak transcription	Adipose Nuclei	Adipose
35	chr11:26862000-26865000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:26862000-26865000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:26862000-26865400	Enhancers	Stomach Smooth Muscle	stomach
38	chr11:26862200-26863200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:26862200-26863600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:26862400-26863400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:26862400-26863800	Enhancers	NHDF-Ad	bronchial
42	chr11:26862400-26865000	Enhancers	Rectal Smooth Muscle	rectum
43	chr11:26862400-26870600	Weak transcription	Psoas Muscle	Psoas
44	chr11:26862600-26864400	Enhancers	HSMM	muscle
45	chr11:26862600-26866800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:26862800-26864200	Weak transcription	Aorta	Aorta
47	chr11:26862800-26865200	Enhancers	Osteobl	bone
48	chr11:26863000-26864400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr11:26863200-26864200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:26863200-26864200	Enhancers	Fetal Lung	lung

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