Variant report

Variant	esv2296958
Chromosome Location	chr2:10658131-10658593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10654305..10656431-chr2:10657961..10660518,3	K562	blood:
2	chr2:10656282..10658609-chr2:10661566..10663626,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115478774	chr2:10658131-10658132	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112618300	chr2:10658188-10658189	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs140476001	chr2:10658228-10658229	ZNF genes & repeats Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62128568	chr2:10658230-10658231	ZNF genes & repeats Genic enhancers Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576542651	chr2:10658231-10658232	ZNF genes & repeats Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138520261	chr2:10658306-10658307	ZNF genes & repeats Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371555706	chr2:10658307-10658308	ZNF genes & repeats Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111575545	chr2:10658343-10658344	ZNF genes & repeats Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562361577	chr2:10658381-10658382	ZNF genes & repeats Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372734540	chr2:10658390-10658391	ZNF genes & repeats Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113825589	chr2:10658400-10658401	ZNF genes & repeats Genic enhancers Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574366063	chr2:10658413-10658414	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111206560	chr2:10658447-10658448	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560528064	chr2:10658449-10658450	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527730190	chr2:10658458-10658459	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552543468	chr2:10658459-10658460	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377339760	chr2:10658488-10658489	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111161960	chr2:10658489-10658490	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531857998	chr2:10658490-10658491	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370714584	chr2:10658507-10658508	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568705650	chr2:10658514-10658515	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536147800	chr2:10658520-10658521	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547823280	chr2:10658534-10658535	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566367534	chr2:10658578-10658579	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370081832	chr2:10658589-10658590	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10645600-10658200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10657200-10658200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:10657800-10658200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:10657800-10658200	Enhancers	Fetal Muscle Trunk	muscle
5	chr2:10657800-10658200	ZNF genes & repeats	Fetal Muscle Leg	muscle
6	chr2:10658000-10658600	ZNF genes & repeats	Spleen	Spleen
7	chr2:10658200-10658400	Enhancers	Fetal Muscle Leg	muscle
8	chr2:10658200-10658600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:10658200-10658600	Active TSS	Fetal Kidney	kidney
10	chr2:10658200-10658600	Enhancers	Pancreas	Pancrea
11	chr2:10658200-10658800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:10658200-10658800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr2:10658200-10658800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:10658200-10658800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:10658400-10658600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:10658400-10658800	Enhancers	Gastric	stomach
17	chr2:10658400-10659200	Weak transcription	Fetal Muscle Leg	muscle

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