Variant report

Variant	esv275010
Chromosome Location	chr10:95978397-95982802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 151 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555956674	chr10:95978432-95978433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575320007	chr10:95978456-95978457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537983936	chr10:95978457-95978458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558122656	chr10:95978459-95978460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560988263	chr10:95978467-95978468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577917479	chr10:95978562-95978563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7085875	chr10:95978581-95978582	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs560739588	chr10:95978654-95978655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531216391	chr10:95978660-95978661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10661238	chr10:95978661-95978662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112344246	chr10:95978665-95978666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397738406	chr10:95978666-95978667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112303162	chr10:95978676-95978677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565759302	chr10:95978727-95978728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536400627	chr10:95978756-95978757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35610030	chr10:95978764-95978765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34188850	chr10:95978847-95978848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537167276	chr10:95978906-95978907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574399504	chr10:95978930-95978931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112382381	chr10:95978983-95978984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181195304	chr10:95979000-95979001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375772589	chr10:95979077-95979078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369730081	chr10:95979241-95979242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143470493	chr10:95979251-95979252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565003363	chr10:95979299-95979300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527247356	chr10:95979328-95979329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114481511	chr10:95979378-95979379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77533189	chr10:95979428-95979429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148004947	chr10:95979517-95979518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143557937	chr10:95979525-95979526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7914268	chr10:95979526-95979527	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs555588924	chr10:95979535-95979536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376348890	chr10:95979541-95979542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577270858	chr10:95979577-95979578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538835156	chr10:95979659-95979660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185635354	chr10:95979679-95979680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578064374	chr10:95979685-95979686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533906614	chr10:95979789-95979790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147503429	chr10:95979847-95979848	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141915737	chr10:95979929-95979930	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553208426	chr10:95979932-95979933	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190150762	chr10:95979940-95979941	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543387607	chr10:95979941-95979942	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563061718	chr10:95979950-95979951	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377451632	chr10:95979963-95979964	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113547850	chr10:95979976-95979977	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182727778	chr10:95980004-95980005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545589412	chr10:95980023-95980024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573086050	chr10:95980051-95980052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564803194	chr10:95980083-95980084	Weak transcription Strong transcription	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
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
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95941200-95979800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr10:95960000-95991800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:95966600-95987000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:95967400-95988000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr10:95970800-96005800	Weak transcription	Colonic Mucosa	Colon
6	chr10:95971000-95994000	Weak transcription	Gastric	stomach
7	chr10:95971200-95979200	Weak transcription	Fetal Heart	heart
8	chr10:95971200-95979600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:95971200-95983800	Weak transcription	Pancreas	Pancrea
10	chr10:95971200-95987200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:95973200-95980200	Weak transcription	Fetal Intestine Large	intestine
12	chr10:95973200-95983800	Weak transcription	Fetal Lung	lung
13	chr10:95973400-96012200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr10:95974200-96034000	Weak transcription	Colon Smooth Muscle	Colon
15	chr10:95974400-95987800	Weak transcription	Fetal Brain Female	brain
16	chr10:95974600-95983800	Weak transcription	Ovary	ovary
17	chr10:95974800-95982200	Weak transcription	Lung	lung
18	chr10:95975000-95981800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr10:95975000-95982200	Weak transcription	Left Ventricle	heart
20	chr10:95975000-95985400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:95975200-95983200	Weak transcription	A549	lung
22	chr10:95975200-95992600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:95975400-95987000	Weak transcription	Aorta	Aorta
24	chr10:95975800-95980600	Weak transcription	Fetal Intestine Small	intestine
25	chr10:95975800-95982200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr10:95976200-95980400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr10:95976400-95982200	Weak transcription	Fetal Muscle Leg	muscle
28	chr10:95977000-95980000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:95977200-95983800	Weak transcription	Fetal Stomach	stomach
30	chr10:95977400-95980000	Enhancers	HSMMtube	muscle
31	chr10:95979200-95979800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr10:95979200-95980000	Enhancers	Fetal Heart	heart
33	chr10:95979400-95979600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:95979400-95979800	Enhancers	Osteobl	bone
35	chr10:95979600-95980000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:95979600-95980000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:95979800-95980800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr10:95979800-95984000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr10:95979800-95984000	Weak transcription	Osteobl	bone
40	chr10:95980000-95980400	Weak transcription	HSMMtube	muscle
41	chr10:95980000-95983400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:95980000-95984000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:95980000-95984000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:95980000-95985600	Weak transcription	Fetal Heart	heart
45	chr10:95980200-95981000	Strong transcription	Fetal Intestine Large	intestine
46	chr10:95980400-95980600	Enhancers	HSMMtube	muscle
47	chr10:95980400-95982400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr10:95980600-95983000	Strong transcription	Fetal Intestine Small	intestine
49	chr10:95980600-95993800	Weak transcription	HSMMtube	muscle
50	chr10:95980800-95983200	Weak transcription	Rectal Mucosa Donor 31	rectum

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