Variant report

Variant	nsv459
Chromosome Location	chr11:100437204-100481953
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:100447225..100447948-chr11:100803021..100803878,2	MCF-7	breast:
2	chr11:100463396..100465421-chr11:100466460..100469260,2	K562	blood:
3	chr11:100448550..100449412-chr11:100802794..100803475,2	K562	blood:
4	chr11:100446930..100447515-chr11:100802994..100803615,2	MCF-7	breast:
5	chr11:100446552..100447865-chr11:100802950..100803911,5	K562	blood:
6	chr11:100446891..100447788-chr11:100801095..100801986,2	MCF-7	breast:
7	chr11:100446949..100447784-chr11:100800696..100801382,2	MCF-7	breast:
8	chr11:100463396..100465421-chr11:100466460..100469260,2	K562	blood:
9	chr11:100446854..100447800-chr11:100800624..100801423,2	K562	blood:
10	chr11:100447010..100447615-chr11:100725659..100726412,2	MCF-7	breast:

No data

Extended variants
information (count: 1734 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1734 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147385377	chr11:100437267-100437268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75890097	chr11:100437273-100437274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139084066	chr11:100437282-100437283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1216576	chr11:100437352-100437353	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571040031	chr11:100437377-100437378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188804598	chr11:100437392-100437393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77798154	chr11:100437404-100437405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535778151	chr11:100437408-100437409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1216577	chr11:100437422-100437423	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575766138	chr11:100437434-100437435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544666757	chr11:100437445-100437446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78459430	chr11:100437469-100437470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536495452	chr11:100437495-100437496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181959548	chr11:100437533-100437534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78227021	chr11:100437585-100437586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368869501	chr11:100437601-100437602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545464285	chr11:100437623-100437624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565355216	chr11:100437723-100437724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575842202	chr11:100437731-100437732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111762209	chr11:100437746-100437747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374017071	chr11:100437856-100437857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563293445	chr11:100437860-100437861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574677582	chr11:100437885-100437886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190582140	chr11:100437928-100437929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559647331	chr11:100437944-100437945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181041336	chr11:100437970-100437971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185891533	chr11:100438033-100438034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113656259	chr11:100438060-100438061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191212451	chr11:100438091-100438092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542009334	chr11:100438134-100438135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373604699	chr11:100438142-100438143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146965720	chr11:100438150-100438151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367741170	chr11:100438174-100438175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202181516	chr11:100438193-100438194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113073295	chr11:100438210-100438211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11224286	chr11:100438239-100438240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567198331	chr11:100438240-100438241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1216578	chr11:100438262-100438263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs558958184	chr11:100438263-100438264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368785409	chr11:100438265-100438266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57556660	chr11:100438270-100438271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564068884	chr11:100438277-100438278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575712567	chr11:100438284-100438285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544339340	chr11:100438302-100438303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555087022	chr11:100438309-100438310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182540315	chr11:100438342-100438343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528345274	chr11:100438349-100438350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559207908	chr11:100438361-100438362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112877274	chr11:100438362-100438363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34973716	chr11:100438369-100438370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100433400-100442200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:100435800-100437800	Enhancers	HUVEC	blood vessel
3	chr11:100443200-100445600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:100444400-100445000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:100444400-100445000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:100444400-100445000	Enhancers	NHDF-Ad	bronchial
7	chr11:100444600-100444800	Enhancers	Rectal Smooth Muscle	rectum
8	chr11:100444600-100447400	Enhancers	Liver	Liver
9	chr11:100444800-100445000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:100444800-100446000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:100445000-100447000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:100445000-100448600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:100445000-100449000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:100445400-100445800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:100445600-100446000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:100445800-100448800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:100446000-100447200	Enhancers	Rectal Smooth Muscle	rectum
18	chr11:100446000-100449200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:100446600-100446800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr11:100446800-100447000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr11:100447000-100447200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:100447000-100447200	Enhancers	Brain Anterior Caudate	brain
23	chr11:100447000-100447400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:100447000-100447400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr11:100447000-100448000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:100447000-100450200	Enhancers	Fetal Lung	lung
27	chr11:100447200-100451800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:100447400-100451800	Weak transcription	Liver	Liver
29	chr11:100448000-100449200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:100448600-100450000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:100448800-100450600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:100449000-100450000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:100449000-100450000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:100449000-100450200	Enhancers	NHEK	skin
35	chr11:100449000-100450600	Enhancers	NHLF	lung
36	chr11:100449200-100449600	Enhancers	Osteobl	bone
37	chr11:100449200-100449800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr11:100449200-100449800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr11:100449200-100449800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:100449200-100449800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:100449200-100450000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:100449200-100450000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:100449200-100450000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:100449200-100450000	Enhancers	Stomach Smooth Muscle	stomach
45	chr11:100449200-100450000	Enhancers	NH-A	brain
46	chr11:100449200-100450200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:100449200-100450600	Enhancers	HMEC	breast
48	chr11:100449400-100449800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr11:100449400-100450000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr11:100449600-100449800	Enhancers	NHDF-Ad	bronchial

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