Variant report

Variant	esv2757387
Chromosome Location	chr10:56436508-56473754
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	chr10:53779538..53781883-chr10:56470843..56472932,2	MCF-7	breast:

Extended variants
information (count: 584 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555555424	chr10:56439816-56439817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79648864	chr10:56439835-56439836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539703404	chr10:56439854-56439855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535619283	chr10:56439859-56439860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555829032	chr10:56439863-56439864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557424954	chr10:56439936-56439937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577606953	chr10:56440025-56440026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543059548	chr10:56440031-56440032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10825372	chr10:56440040-56440041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573870192	chr10:56440051-56440052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58472825	chr10:56440093-56440094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10763124	chr10:56440108-56440109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs375090225	chr10:56440115-56440116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35949592	chr10:56440136-56440137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80189875	chr10:56440168-56440169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541581846	chr10:56440188-56440189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577936748	chr10:56440269-56440270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369402862	chr10:56440305-56440306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549931774	chr10:56440319-56440320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563663253	chr10:56440333-56440334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529575312	chr10:56440341-56440342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113059451	chr10:56440355-56440356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369965173	chr10:56440356-56440357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565977272	chr10:56440371-56440372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113944497	chr10:56440374-56440375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534879755	chr10:56440381-56440382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375843315	chr10:56440393-56440394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555750076	chr10:56440400-56440401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191590410	chr10:56440412-56440413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551518570	chr10:56440444-56440445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571257379	chr10:56440445-56440446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537119365	chr10:56440461-56440462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537078973	chr10:56440487-56440488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556718463	chr10:56440526-56440527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183844673	chr10:56440535-56440536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187484253	chr10:56440539-56440540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555816650	chr10:56440557-56440558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138778435	chr10:56440597-56440598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573136748	chr10:56440619-56440620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1855904	chr10:56440650-56440651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191165790	chr10:56440655-56440656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183295649	chr10:56440689-56440690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10825373	chr10:56440887-56440888	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112716818	chr10:56440888-56440889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545289775	chr10:56440896-56440897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529244339	chr10:56440930-56440931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73253099	chr10:56440942-56440943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559628492	chr10:56440946-56440947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149298755	chr10:56440956-56440957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75467684	chr10:56441012-56441013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Cancer	20164919	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56439800-56440000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:56440000-56441600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:56440800-56441600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:56441400-56442800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:56441600-56441800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:56441800-56442400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:56442400-56442600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:56442600-56443000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:56443000-56443400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:56448600-56449000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr10:56449000-56451000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr10:56450200-56452800	Enhancers	Fetal Lung	lung
13	chr10:56450800-56451600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:56451000-56451600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr10:56451200-56451600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:56458000-56459000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:56466400-56471000	Enhancers	Fetal Lung	lung
18	chr10:56466600-56469000	Enhancers	Fetal Brain Male	brain
19	chr10:56467600-56468800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr10:56468600-56469200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:56469200-56470600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:56470600-56471000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:56471000-56472000	Weak transcription	Fetal Lung	lung
24	chr10:56472200-56472400	Enhancers	Fetal Lung	lung

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