Variant report

Variant	esv2286752
Chromosome Location	chr2:10627970-10628375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10611237..10613247-chr2:10627785..10629806,2	K562	blood:
2	chr2:10627903..10630300-chr2:10631307..10633904,2	MCF-7	breast:
3	chr2:10610276..10612737-chr2:10628306..10630616,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114192031	chr2:10628003-10628004	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs552429291	chr2:10628007-10628008	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs571167228	chr2:10628030-10628031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs113254120	chr2:10628052-10628053	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs73914097	chr2:10628060-10628061	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs556875069	chr2:10628072-10628073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs568763274	chr2:10628086-10628087	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs536323676	chr2:10628101-10628102	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs111274756	chr2:10628115-10628116	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs112328225	chr2:10628147-10628148	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs183210155	chr2:10628169-10628170	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs2463454	chr2:10628201-10628202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9677231	chr2:10628209-10628210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2463455	chr2:10628223-10628224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373422512	chr2:10628233-10628234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62127127	chr2:10628240-10628241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76851705	chr2:10628248-10628249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77680066	chr2:10628252-10628253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62128561	chr2:10628259-10628260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs62128562	chr2:10628262-10628263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs62128563	chr2:10628263-10628264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113036075	chr2:10628275-10628276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113108533	chr2:10628281-10628282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191439400	chr2:10628297-10628298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544191731	chr2:10628325-10628326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113927584	chr2:10628347-10628348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112605311	chr2:10628368-10628369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10619400-10636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10626400-10628000	Bivalent Enhancer	HepG2	liver
3	chr2:10626600-10628000	Enhancers	Stomach Mucosa	stomach
4	chr2:10627000-10629600	Weak transcription	Colonic Mucosa	Colon
5	chr2:10627000-10632800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:10627200-10631200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:10627600-10628000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr2:10627600-10628200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:10627600-10629800	Weak transcription	Fetal Intestine Small	intestine
10	chr2:10627800-10629800	Weak transcription	A549	lung
11	chr2:10627800-10630000	Weak transcription	Fetal Intestine Large	intestine
12	chr2:10627800-10630600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:10627800-10631000	Weak transcription	Lung	lung
14	chr2:10627800-10631200	Weak transcription	Pancreas	Pancrea
15	chr2:10627800-10633200	Weak transcription	Hela-S3	cervix

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