Variant report

Variant	esv3417399
Chromosome Location	chr10:90810122-90812028
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	chr10:90807595..90810361-chr10:90944518..90946449,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183602492	chr10:90810197-90810198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370910312	chr10:90810227-90810228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569394616	chr10:90810237-90810238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76880946	chr10:90810243-90810244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201715619	chr10:90810258-90810259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76065976	chr10:90810279-90810280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187516497	chr10:90810283-90810284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573282124	chr10:90810304-90810305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12268824	chr10:90810380-90810381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113841290	chr10:90810396-90810397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555382668	chr10:90810403-90810404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573595181	chr10:90810407-90810408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190098782	chr10:90810423-90810424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373760534	chr10:90810551-90810552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562648292	chr10:90810552-90810553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533123958	chr10:90810553-90810554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567594450	chr10:90810666-90810667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544903523	chr10:90810668-90810669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542034252	chr10:90810717-90810718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560178105	chr10:90810719-90810720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371076830	chr10:90810765-90810766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548999027	chr10:90810820-90810821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368779350	chr10:90810835-90810836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567226839	chr10:90810839-90810840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182371480	chr10:90810866-90810867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535028686	chr10:90810885-90810886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376473633	chr10:90810902-90810903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569470537	chr10:90810940-90810941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73355394	chr10:90810969-90810970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551718207	chr10:90811028-90811029	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566946820	chr10:90811033-90811034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534072793	chr10:90811078-90811079	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555443945	chr10:90811096-90811097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573657160	chr10:90811146-90811147	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144015621	chr10:90811183-90811184	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187043904	chr10:90811204-90811205	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577894875	chr10:90811230-90811231	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545178808	chr10:90811235-90811236	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560139092	chr10:90811261-90811262	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371888331	chr10:90811267-90811268	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561910279	chr10:90811271-90811272	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192586039	chr10:90811291-90811292	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7085850	chr10:90811299-90811300	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs376269725	chr10:90811372-90811373	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560983267	chr10:90811373-90811374	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182656017	chr10:90811399-90811400	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540934293	chr10:90811414-90811415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113971021	chr10:90811476-90811477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148673355	chr10:90811493-90811494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141266452	chr10:90811523-90811524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	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
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90792800-90814600	Weak transcription	GM12878-XiMat	blood
2	chr10:90794200-90816800	Weak transcription	Left Ventricle	heart
3	chr10:90801400-90829400	Weak transcription	Aorta	Aorta
4	chr10:90802600-90815000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:90803200-90813200	Weak transcription	Ovary	ovary
6	chr10:90803200-90825000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:90804000-90810800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:90806000-90811200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr10:90806200-90814600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr10:90807800-90811000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr10:90807800-90822200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:90807800-90825000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr10:90808000-90823800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:90808200-90811000	Weak transcription	Small Intestine	intestine
15	chr10:90808200-90813800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:90808400-90813000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr10:90810800-90811400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:90811000-90811200	Enhancers	Fetal Intestine Large	intestine
19	chr10:90811000-90811200	Enhancers	Small Intestine	intestine
20	chr10:90811000-90812400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr10:90811200-90811600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr10:90811200-90811600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr10:90811200-90812000	Weak transcription	Small Intestine	intestine
24	chr10:90811200-90812800	Weak transcription	Fetal Intestine Large	intestine
25	chr10:90811400-90822600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:90811600-90814600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr10:90811600-90815000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr10:90812000-90812200	Enhancers	Small Intestine	intestine

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