Variant report

Variant	nsv468853
Chromosome Location	chr11:101539408-101616696
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:101585641..101587293-chr11:101587607..101589983,2	K562	blood:
2	chr11:101601852..101603833-chr11:101605803..101608471,2	MCF-7	breast:
3	chr11:101611797..101613703-chr11:101613756..101615793,2	MCF-7	breast:
4	chr11:100998594..101000111-chr11:101554824..101557594,2	MCF-7	breast:
5	chr11:101601852..101603833-chr11:101605803..101608471,2	MCF-7	breast:
6	chr11:101555926..101558823-chr11:101880932..101883184,2	MCF-7	breast:
7	chr11:101585641..101587293-chr11:101587607..101589983,2	K562	blood:
8	chr11:101611797..101613703-chr11:101613756..101615793,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000082175	chromatin interactions

Extended variants
information (count: 2492 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2492 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7938043	chr11:101539408-101539409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557438079	chr11:101539409-101539410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1938845	chr11:101539425-101539426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12785823	chr11:101539434-101539435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199794914	chr11:101539436-101539437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1783671	chr11:101539443-101539444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573765604	chr11:101539474-101539475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1939448	chr11:101539475-101539476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs552979963	chr11:101539484-101539485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71059513	chr11:101539525-101539526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540876796	chr11:101539542-101539543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572887862	chr11:101539563-101539564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184157918	chr11:101539599-101539600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541271735	chr11:101539605-101539606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117643981	chr11:101539631-101539632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112235899	chr11:101539634-101539635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188704014	chr11:101539646-101539647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1939447	chr11:101539684-101539685	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563392965	chr11:101539730-101539731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1939446	chr11:101539732-101539733	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191450427	chr11:101539733-101539734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549867417	chr11:101539776-101539777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114826820	chr11:101539780-101539781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374206511	chr11:101539860-101539861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559430171	chr11:101539896-101539897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569747880	chr11:101539971-101539972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552055387	chr11:101539978-101539979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183617746	chr11:101539983-101539984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151105174	chr11:101540027-101540028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532058377	chr11:101540068-101540069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35456437	chr11:101540073-101540074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566252960	chr11:101540078-101540079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567502147	chr11:101540107-101540108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141098834	chr11:101540169-101540170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376420918	chr11:101540171-101540172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553043391	chr11:101540189-101540190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546917171	chr11:101540250-101540251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538613498	chr11:101540262-101540263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78395305	chr11:101540273-101540274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569985422	chr11:101540353-101540354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577829616	chr11:101540364-101540365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10895174	chr11:101541224-101541225	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530243301	chr11:101541255-101541256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75886888	chr11:101541256-101541257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138626574	chr11:101541268-101541269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532532271	chr11:101541277-101541278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181654850	chr11:101541302-101541303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569201568	chr11:101541311-101541312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538192218	chr11:101541328-101541329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113541638	chr11:101541339-101541340	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Esophageal cancer	21851588	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164920	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Intracranial ependymoma	16609018	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101539400-101540400	Enhancers	Fetal Lung	lung
2	chr11:101541200-101541400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:101555000-101555600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:101555400-101558000	Enhancers	A549	lung
5	chr11:101555600-101556000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:101555800-101556000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:101555800-101556000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:101555800-101556000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:101555800-101556000	Enhancers	NHDF-Ad	bronchial
10	chr11:101555800-101556200	Enhancers	NHEK	skin
11	chr11:101556000-101557000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:101556000-101557000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:101556000-101557000	Weak transcription	NHDF-Ad	bronchial
14	chr11:101556000-101563000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:101556200-101556600	Weak transcription	NHEK	skin
16	chr11:101556600-101558000	Enhancers	NHEK	skin
17	chr11:101557000-101558000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:101557000-101558000	Enhancers	HMEC	breast
19	chr11:101557000-101558000	Enhancers	NH-A	brain
20	chr11:101557000-101558000	Enhancers	NHDF-Ad	bronchial
21	chr11:101557000-101558200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:101557200-101557400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:101557200-101558000	Enhancers	Osteobl	bone
24	chr11:101557200-101558200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:101557200-101558200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:101557600-101558800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:101560800-101563200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr11:101561600-101568400	Weak transcription	Ovary	ovary
29	chr11:101563200-101564400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:101564400-101565000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr11:101564800-101565600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr11:101564800-101565600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr11:101564800-101565800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr11:101564800-101565800	Enhancers	A549	lung
35	chr11:101564800-101578400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:101565000-101565600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr11:101565600-101565800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr11:101575200-101575600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr11:101575200-101575800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr11:101575200-101578800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr11:101575400-101575600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr11:101575400-101576200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr11:101575400-101576600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr11:101575600-101576600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:101575800-101576000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr11:101575800-101576400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:101575800-101577600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:101576000-101576200	Enhancers	Esophagus	oesophagus
49	chr11:101576000-101576800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr11:101576000-101577000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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