Variant report

Variant	esv3457346
Chromosome Location	chr2:11081749-11082263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11075163..11076703-chr2:11081992..11083807,2	K562	blood:
2	chr2:11074723..11077921-chr2:11081034..11085033,4	MCF-7	breast:
3	chr2:11079423..11082199-chr2:11261884..11263579,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4669651	chr2:11081762-11081763	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569040147	chr2:11081816-11081817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553675230	chr2:11081841-11081842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572240496	chr2:11081895-11081896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4669652	chr2:11081916-11081917	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557853586	chr2:11081918-11081919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34783361	chr2:11081919-11081920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397741544	chr2:11081929-11081930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375782697	chr2:11081945-11081946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs36027771	chr2:11081957-11081958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536473340	chr2:11081960-11081961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143046388	chr2:11081968-11081969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543423891	chr2:11081992-11081993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553550058	chr2:11082004-11082005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562000393	chr2:11082053-11082054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184031480	chr2:11082058-11082059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541741313	chr2:11082063-11082064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148218194	chr2:11082068-11082069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112208863	chr2:11082079-11082080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188757928	chr2:11082083-11082084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397872971	chr2:11082086-11082087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552266596	chr2:11082111-11082112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34570170	chr2:11082112-11082113	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs181476583	chr2:11082115-11082116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142778231	chr2:11082125-11082126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186997931	chr2:11082159-11082160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191742316	chr2:11082185-11082186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547698499	chr2:11082190-11082191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6711653	chr2:11082191-11082192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182373003	chr2:11082193-11082194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186372728	chr2:11082195-11082196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557790424	chr2:11082205-11082206	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374162610	chr2:11082207-11082208	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11075800-11082800	Weak transcription	Fetal Brain Male	brain
2	chr2:11076600-11087600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:11079800-11087200	Weak transcription	A549	lung
4	chr2:11080000-11081800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:11080000-11083600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:11080400-11082600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:11080800-11092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:11081400-11104600	Weak transcription	Right Atrium	heart
9	chr2:11081600-11081800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:11081600-11081800	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr2:11082200-11082400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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