Variant report

Variant	nsv553908
Chromosome Location	chr11:26661690-26674033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:26318438..26319350-chr11:26670793..26671982,7	MCF-7	breast:
2	chr11:26669136..26671365-chr14:104584975..104586845,2	MCF-7	breast:
3	chr11:26544159..26545613-chr11:26671003..26672359,7	MCF-7	breast:

Extended variants
information (count: 451 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7110072	chr11:26661690-26661691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112410633	chr11:26661700-26661701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200385986	chr11:26661763-26661764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112289118	chr11:26661786-26661787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74821109	chr11:26661800-26661801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537479076	chr11:26661802-26661803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188330284	chr11:26661808-26661809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571470682	chr11:26661851-26661852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113089691	chr11:26661859-26661860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538876953	chr11:26661866-26661867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371338143	chr11:26661890-26661891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553693248	chr11:26661926-26661927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180801449	chr11:26661940-26661941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35290179	chr11:26661944-26661945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs148000557	chr11:26661958-26661959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186402366	chr11:26661970-26661971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191888173	chr11:26661999-26662000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs118056121	chr11:26662022-26662023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373195664	chr11:26662033-26662034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12795885	chr11:26662047-26662048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs577471350	chr11:26662064-26662065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541670871	chr11:26662102-26662103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542278261	chr11:26662106-26662107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559787599	chr11:26662123-26662124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530367743	chr11:26662180-26662181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80281565	chr11:26662215-26662216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548353705	chr11:26662220-26662221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10835036	chr11:26662221-26662222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531274047	chr11:26662226-26662227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182273840	chr11:26662231-26662232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571181228	chr11:26662232-26662233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572611548	chr11:26662272-26662273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10835037	chr11:26662282-26662283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10835038	chr11:26662303-26662304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs74935993	chr11:26662416-26662417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374045984	chr11:26662465-26662466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140779724	chr11:26662491-26662492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370679513	chr11:26662502-26662503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111403672	chr11:26662504-26662505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4497357	chr11:26662546-26662547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558690651	chr11:26662581-26662582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577076290	chr11:26662582-26662583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577211015	chr11:26662618-26662619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541066430	chr11:26662697-26662698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566252348	chr11:26662714-26662715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4551717	chr11:26662738-26662739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs4553331	chr11:26662751-26662752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs67228876	chr11:26662758-26662759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34083670	chr11:26662759-26662760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72881723	chr11:26662766-26662767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26645200-26671600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:26671400-26671800	Enhancers	Colon Smooth Muscle	Colon
3	chr11:26671600-26671800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr11:26671600-26671800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
5	chr11:26671600-26671800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:26671600-26671800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:26671600-26671800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:26671600-26671800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:26671600-26671800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:26671600-26671800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:26671600-26671800	Bivalent Enhancer	Fetal Intestine Large	intestine
12	chr11:26671600-26672000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:26671600-26672000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:26671600-26672000	Active TSS	NHDF-Ad	bronchial
15	chr11:26673200-26676600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:26673600-26674200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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