Variant report

Variant	esv1794090
Chromosome Location	chr10:95543430-95546273
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	chr10:95506239..95506799-chr10:95543554..95544136,2	MCF-7	breast:
2	chr10:95538097..95540251-chr10:95543873..95546365,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17109405	chr10:95543430-95543431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192322674	chr10:95543437-95543438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576254362	chr10:95543495-95543496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182526258	chr10:95543496-95543497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112281414	chr10:95543506-95543507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565276312	chr10:95543509-95543510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565878810	chr10:95543521-95543522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528691052	chr10:95543575-95543576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540879426	chr10:95543625-95543626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188041970	chr10:95543700-95543701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560959530	chr10:95543741-95543742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529623827	chr10:95543742-95543743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549883305	chr10:95543744-95543745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563351794	chr10:95543763-95543764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532395694	chr10:95543850-95543851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75981342	chr10:95543911-95543912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79390366	chr10:95543937-95543938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534922655	chr10:95543995-95543996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548162471	chr10:95544063-95544064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567669455	chr10:95544080-95544081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536227532	chr10:95544116-95544117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80276254	chr10:95544118-95544119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576116715	chr10:95544135-95544136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376174493	chr10:95544194-95544195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578131722	chr10:95544255-95544256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539953552	chr10:95544257-95544258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558727975	chr10:95544340-95544341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79819100	chr10:95544364-95544365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142024924	chr10:95544493-95544494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191711416	chr10:95544514-95544515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574403052	chr10:95544517-95544518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543047575	chr10:95544534-95544535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10736081	chr10:95544550-95544551	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532256282	chr10:95544563-95544564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184305576	chr10:95544601-95544602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552256680	chr10:95544619-95544620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559484929	chr10:95544621-95544622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150862177	chr10:95544626-95544627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12245206	chr10:95544641-95544642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs568258875	chr10:95544645-95544646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536689213	chr10:95544727-95544728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549770161	chr10:95544731-95544732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114747519	chr10:95544785-95544786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541074311	chr10:95544800-95544801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538768575	chr10:95544832-95544833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558591773	chr10:95544855-95544856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148683291	chr10:95544856-95544857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566297575	chr10:95544857-95544858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563156551	chr10:95544859-95544860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534884535	chr10:95544864-95544865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95528600-95559600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:95530000-95554800	Weak transcription	Brain Hippocampus Middle	brain
3	chr10:95530400-95549400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr10:95530600-95558000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr10:95535000-95554600	Weak transcription	Brain Anterior Caudate	brain
6	chr10:95537000-95546600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:95539600-95550000	Weak transcription	Fetal Stomach	stomach
8	chr10:95540400-95547000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr10:95544400-95544600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:95544600-95545400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:95545200-95545400	Enhancers	HSMMtube	muscle
12	chr10:95545200-95546800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:95545400-95546000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:95545600-95547600	Weak transcription	HSMMtube	muscle
15	chr10:95546000-95549000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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