Variant report

Variant	nsv819162
Chromosome Location	chr10:118237197-118238237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PNLIPRP3	hsa-miR-335-5p	chr10:118237355-118237378

Extended variants
information (count: 33 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568911630	chr10:118237215-118237216	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543955833	chr10:118237232-118237233	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571085254	chr10:118237316-118237317	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564234234	chr10:118237343-118237344	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7898331	chr10:118237356-118237357	Enhancers Strong transcription Weak transcription	miRNA target site	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369546503	chr10:118237436-118237437	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1431481	chr10:118237471-118237472	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566732382	chr10:118237479-118237480	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529208190	chr10:118237538-118237539	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373579787	chr10:118237539-118237540	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572954843	chr10:118237561-118237562	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116376151	chr10:118237583-118237584	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183961063	chr10:118237598-118237599	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187237462	chr10:118237603-118237604	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115708612	chr10:118237612-118237613	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534051727	chr10:118237623-118237624	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555689517	chr10:118237645-118237646	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190810351	chr10:118237678-118237679	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373027924	chr10:118237755-118237756	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182611916	chr10:118237760-118237761	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573939529	chr10:118237843-118237844	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149670513	chr10:118237849-118237850	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556848655	chr10:118237851-118237852	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10787675	chr10:118237852-118237853	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544218146	chr10:118237856-118237857	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147790365	chr10:118237869-118237870	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10787676	chr10:118237918-118237919	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs535152706	chr10:118237958-118237959	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560388743	chr10:118237998-118237999	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141231222	chr10:118238020-118238021	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145509998	chr10:118238031-118238032	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147731859	chr10:118238050-118238051	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575656828	chr10:118238093-118238094	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118230800-118240600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr10:118231200-118238200	Strong transcription	NHEK	skin
3	chr10:118231200-118238600	Strong transcription	HMEC	breast
4	chr10:118231400-118239400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:118232800-118237200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr10:118234600-118237200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:118236400-118237800	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:118236400-118238400	Enhancers	Rectal Smooth Muscle	rectum
9	chr10:118236800-118237600	Weak transcription	Fetal Stomach	stomach
10	chr10:118237000-118237800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr10:118237200-118238000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:118237200-118238200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr10:118237600-118238000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr10:118237600-118238200	Enhancers	Fetal Muscle Leg	muscle
15	chr10:118237600-118238600	Enhancers	Fetal Stomach	stomach
16	chr10:118237600-118238800	Enhancers	Fetal Brain Male	brain
17	chr10:118237800-118238200	Enhancers	Colon Smooth Muscle	Colon
18	chr10:118237800-118238200	Enhancers	Stomach Smooth Muscle	stomach
19	chr10:118238000-118240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:118238200-118241800	Weak transcription	NHEK	skin

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