Variant report

Variant	esv3372373
Chromosome Location	chr10:94550554-94550818
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	chr10:94546736..94548266-chr10:94550433..94553246,2	K562	blood:
2	chr10:94540147..94545458-chr10:94548038..94552843,7	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556555008	chr10:94550620-94550621	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs200208420	chr10:94550629-94550630	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs67412949	chr10:94550646-94550647	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs78452550	chr10:94550695-94550696	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544510026	chr10:94550707-94550708	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564342677	chr10:94550725-94550726	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs532962921	chr10:94550730-94550731	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs113109058	chr10:94550742-94550743	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs540397235	chr10:94550765-94550766	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs560006904	chr10:94550777-94550778	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Chronic lymphocytic leukemia	20421269	CNVD
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94546600-94551200	Enhancers	Primary B cells from peripheral blood	blood
2	chr10:94546800-94551200	Enhancers	Primary B cells from cord blood	blood
3	chr10:94547000-94551400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr10:94548600-94552000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr10:94549400-94551200	Enhancers	Primary hematopoietic stem cells	blood
6	chr10:94549600-94550600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr10:94549600-94550600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:94549600-94550600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:94549600-94550800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr10:94549600-94550800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr10:94550200-94550800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:94550800-94552000	Enhancers	Monocytes-CD14+_RO01746	blood

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