Variant report

Variant	esv3387445
Chromosome Location	chr10:89851072-89855170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:89621388..89621896-chr10:89851162..89851914,2	MCF-7	breast:
2	chr10:89851904..89854023-chr10:89865175..89867253,2	MCF-7	breast:
3	chr10:89853824..89856538-chr10:89858985..89861232,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTEN-7	chr10:89853303-89853509	NONHSAT015467

Extended variants
information (count: 150 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534917992	chr10:89851079-89851080	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs144501000	chr10:89851126-89851127	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs574409622	chr10:89851228-89851229	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs7090862	chr10:89851322-89851323	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187372225	chr10:89851331-89851332	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs78504103	chr10:89851403-89851404	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs563789199	chr10:89851448-89851449	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572567316	chr10:89851455-89851456	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs375282367	chr10:89851469-89851470	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs192075898	chr10:89851511-89851512	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565480092	chr10:89851512-89851513	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577589811	chr10:89851526-89851527	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs532668679	chr10:89851553-89851554	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs146649621	chr10:89851559-89851560	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114556742	chr10:89851563-89851564	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530144997	chr10:89851579-89851580	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs370507900	chr10:89851609-89851610	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs141326305	chr10:89851641-89851642	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs111297606	chr10:89851662-89851663	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs143805415	chr10:89851696-89851697	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs145493218	chr10:89851697-89851698	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs115782576	chr10:89851744-89851745	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs534600421	chr10:89851785-89851786	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs553261924	chr10:89851790-89851791	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs2184697	chr10:89851815-89851816	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs138604983	chr10:89851846-89851847	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs148855462	chr10:89851906-89851907	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs556548497	chr10:89851924-89851925	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs574948350	chr10:89851992-89851993	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs183582554	chr10:89852003-89852004	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs2184698	chr10:89852061-89852062	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577399849	chr10:89852191-89852192	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs565086556	chr10:89852226-89852227	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs541340208	chr10:89852228-89852229	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs560041591	chr10:89852237-89852238	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs77317482	chr10:89852268-89852269	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs542201784	chr10:89852269-89852270	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs553229039	chr10:89852273-89852274	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs143511062	chr10:89852283-89852284	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs147977283	chr10:89852286-89852287	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs552675200	chr10:89852291-89852292	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs546554309	chr10:89852305-89852306	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs373339612	chr10:89852306-89852307	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs546571349	chr10:89852309-89852310	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs545147792	chr10:89852323-89852324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs567974333	chr10:89852329-89852330	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs564751500	chr10:89852376-89852377	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs574964728	chr10:89852379-89852380	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs535366297	chr10:89852382-89852383	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs75717456	chr10:89852441-89852442	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Thoracic aortic aneurysm	21092924	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
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21569311	CNVD
Cancer	20164919	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	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
Prostate cancer	21147910	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
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:89836600-89852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr10:89839400-89855000	Weak transcription	Lung	lung
3	chr10:89839600-89851600	Weak transcription	Gastric	stomach
4	chr10:89840600-89851600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr10:89848800-89851200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr10:89848800-89852800	Enhancers	HMEC	breast
7	chr10:89848800-89856200	Enhancers	Fetal Thymus	thymus
8	chr10:89849200-89851200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr10:89849400-89852800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr10:89849400-89852800	Weak transcription	Pancreas	Pancrea
11	chr10:89849400-89853200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:89849400-89853400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr10:89849400-89854200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr10:89849400-89854600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr10:89849600-89851200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr10:89849600-89852400	Weak transcription	Adipose Nuclei	Adipose
17	chr10:89849600-89852600	Weak transcription	Fetal Lung	lung
18	chr10:89849600-89853200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr10:89849600-89853200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr10:89849600-89853200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr10:89849600-89853400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr10:89849600-89853600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr10:89849800-89851200	Enhancers	Dnd41	blood
24	chr10:89849800-89852200	Enhancers	Primary B cells from cord blood	blood
25	chr10:89849800-89852800	Enhancers	Primary hematopoietic stem cells	blood
26	chr10:89850000-89852400	Weak transcription	Left Ventricle	heart
27	chr10:89850000-89852600	Weak transcription	Liver	Liver
28	chr10:89850000-89853000	Enhancers	Primary B cells from peripheral blood	blood
29	chr10:89850000-89853200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr10:89850000-89853400	Enhancers	Primary T cells from cord blood	blood
31	chr10:89850200-89851800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr10:89850200-89852000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:89850200-89852400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:89850200-89853400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr10:89850200-89854200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr10:89850400-89851400	Flanking Active TSS	GM12878-XiMat	blood
37	chr10:89850400-89852000	Enhancers	Duodenum Mucosa	Duodenum
38	chr10:89850400-89852800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr10:89850400-89853400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr10:89850400-89854600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr10:89850600-89852800	Weak transcription	Esophagus	oesophagus
42	chr10:89850600-89853000	Enhancers	NHEK	skin
43	chr10:89850800-89852400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:89851000-89851800	Enhancers	Placenta	Placenta
45	chr10:89851000-89852000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr10:89851000-89852000	Enhancers	Thymus	Thymus
47	chr10:89851000-89853000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:89851200-89851800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr10:89851200-89851800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr10:89851200-89851800	Flanking Active TSS	Dnd41	blood

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