Variant report

Variant	esv3329942
Chromosome Location	chr10:89918572-89920520
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	chr10:89919575..89922469-chr10:89924510..89926380,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTEN-8	chr10:89917585-89919220	NONHSAT015469

Extended variants
information (count: 84 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562769095	chr10:89918628-89918629	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs576428466	chr10:89918656-89918657	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs75098528	chr10:89918657-89918658	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs542176860	chr10:89918664-89918665	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs182223030	chr10:89918729-89918730	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs115421875	chr10:89918786-89918787	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs79362629	chr10:89918802-89918803	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs571731002	chr10:89918807-89918808	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs561851723	chr10:89918810-89918811	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs145444067	chr10:89918814-89918815	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs529648176	chr10:89918854-89918855	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs79683201	chr10:89918891-89918892	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs569560341	chr10:89918968-89918969	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs575865	chr10:89919005-89919006	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs558709821	chr10:89919051-89919052	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs35365682	chr10:89919077-89919078	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs10629527	chr10:89919239-89919240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34076905	chr10:89919240-89919241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397976006	chr10:89919260-89919261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147272876	chr10:89919308-89919309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575121178	chr10:89919326-89919327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575902035	chr10:89919341-89919342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528432313	chr10:89919376-89919377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529888942	chr10:89919390-89919391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140668800	chr10:89919407-89919408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537355508	chr10:89919408-89919409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557533987	chr10:89919427-89919428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370816724	chr10:89919459-89919460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114741379	chr10:89919461-89919462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572749460	chr10:89919533-89919534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12359506	chr10:89919555-89919556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143894061	chr10:89919604-89919605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542953050	chr10:89919622-89919623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187185320	chr10:89919687-89919688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576372718	chr10:89919689-89919690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543481256	chr10:89919713-89919714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565065224	chr10:89919717-89919718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532158562	chr10:89919718-89919719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540867015	chr10:89919722-89919723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567960573	chr10:89919726-89919727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529959761	chr10:89919733-89919734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191817236	chr10:89919736-89919737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367664682	chr10:89919747-89919748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530550380	chr10:89919752-89919753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112243443	chr10:89919779-89919780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71477181	chr10:89919783-89919784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539235568	chr10:89919808-89919809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534961404	chr10:89919818-89919819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs494010	chr10:89919843-89919844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553376683	chr10:89919847-89919848	Weak transcription	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:89909200-89918600	Enhancers	Hela-S3	cervix
2	chr10:89909200-89919200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:89909200-89919200	Enhancers	NHDF-Ad	bronchial
4	chr10:89909400-89919200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:89912800-89918800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr10:89912800-89925000	Weak transcription	Left Ventricle	heart
7	chr10:89913000-89924400	Weak transcription	Right Atrium	heart
8	chr10:89914000-89919200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:89914800-89918800	Enhancers	Osteobl	bone
10	chr10:89915200-89929600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:89915800-89919200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:89915800-89919200	Enhancers	HSMM	muscle
13	chr10:89915800-89919200	Enhancers	HUVEC	blood vessel
14	chr10:89915800-89919200	Enhancers	NH-A	brain
15	chr10:89916000-89919200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:89916000-89919200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:89916000-89919200	Enhancers	HMEC	breast
18	chr10:89916200-89919200	Enhancers	NHEK	skin
19	chr10:89916600-89919800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr10:89917200-89918800	Enhancers	Colon Smooth Muscle	Colon
21	chr10:89917200-89919000	Enhancers	Adipose Nuclei	Adipose
22	chr10:89917200-89919000	Enhancers	A549	lung
23	chr10:89917200-89919200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr10:89917200-89919200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:89917200-89919200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:89917200-89919200	Enhancers	Fetal Stomach	stomach
27	chr10:89917200-89919200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr10:89917400-89918800	Enhancers	Rectal Smooth Muscle	rectum
29	chr10:89917400-89918800	Enhancers	HSMMtube	muscle
30	chr10:89917400-89919000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:89917400-89919000	Enhancers	Fetal Intestine Small	intestine
32	chr10:89917400-89919200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:89917400-89919200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr10:89917400-89919200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr10:89917400-89919200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr10:89917400-89919200	Enhancers	Fetal Lung	lung
37	chr10:89917400-89919200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr10:89917600-89919200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr10:89917800-89918600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:89917800-89918800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr10:89917800-89918800	Weak transcription	Ovary	ovary
42	chr10:89917800-89918800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr10:89918000-89918600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr10:89918000-89919000	Weak transcription	Dnd41	blood
45	chr10:89918000-89919200	Enhancers	Small Intestine	intestine
46	chr10:89918200-89918600	Flanking Active TSS	NHLF	lung
47	chr10:89918200-89920400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr10:89918200-89937600	Weak transcription	Aorta	Aorta
49	chr10:89918400-89919000	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr10:89918400-89922200	Weak transcription	Monocytes-CD14+_RO01746	blood

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