Variant report

Variant	nsv1047468
Chromosome Location	chr10:55361202-55459392
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:55360709..55361787-chr10:55606233..55607054,5	MCF-7	breast:
2	chr10:55405153..55407581-chr5:63345532..63348450,2	MCF-7	breast:
3	chr10:55360883..55361625-chr10:55568215..55569121,2	MCF-7	breast:

Extended variants
information (count: 2623 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2623 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543285291	chr10:55361210-55361211	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560123885	chr10:55361271-55361272	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528090618	chr10:55361366-55361367	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs551348985	chr10:55361371-55361372	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs187133474	chr10:55361373-55361374	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571272252	chr10:55361391-55361392	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs530591805	chr10:55361457-55361458	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs550424443	chr10:55361465-55361466	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs562817202	chr10:55361466-55361467	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs536089887	chr10:55361512-55361513	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs553220680	chr10:55361513-55361514	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs566480068	chr10:55361520-55361521	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs535852561	chr10:55361559-55361560	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs145096414	chr10:55361573-55361574	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs200679633	chr10:55361579-55361580	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs531584772	chr10:55361626-55361627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191902265	chr10:55361635-55361636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369134466	chr10:55361643-55361644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557202721	chr10:55361673-55361674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574161774	chr10:55361689-55361690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532887257	chr10:55361692-55361693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184459535	chr10:55361714-55361715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188973518	chr10:55361729-55361730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181794284	chr10:55361730-55361731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151337957	chr10:55361761-55361762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368938748	chr10:55361821-55361822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185535413	chr10:55361837-55361838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190402721	chr10:55361945-55361946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9733895	chr10:55361947-55361948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs180890049	chr10:55361967-55361968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2384269	chr10:55361999-55362000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs529893501	chr10:55362000-55362001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546345340	chr10:55362071-55362072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566341337	chr10:55362131-55362132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140598517	chr10:55362140-55362141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558448980	chr10:55362145-55362146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548453968	chr10:55362158-55362159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571596412	chr10:55362190-55362191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537085087	chr10:55362211-55362212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557417836	chr10:55362220-55362221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574002883	chr10:55362247-55362248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35325261	chr10:55362272-55362273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372994933	chr10:55362324-55362325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7098418	chr10:55362416-55362417	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs150405206	chr10:55362468-55362469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75722026	chr10:55362542-55362543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573496945	chr10:55362585-55362586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7098708	chr10:55362590-55362591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370093167	chr10:55362599-55362600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565609988	chr10:55362611-55362612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Thoracic aortic aneurysm	21092924	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
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55359600-55362200	Weak transcription	HMEC	breast
2	chr10:55359600-55366800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr10:55359800-55361400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:55359800-55362400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:55360200-55361400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr10:55360800-55361600	Enhancers	NHEK	skin
7	chr10:55360800-55367400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr10:55361200-55361400	Active TSS	Liver	Liver
9	chr10:55361200-55361400	Enhancers	HUVEC	blood vessel
10	chr10:55361200-55361600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr10:55361200-55362800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr10:55361200-55365800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr10:55361400-55361600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:55361400-55361600	Flanking Active TSS	Liver	Liver
15	chr10:55361400-55361600	Enhancers	Stomach Mucosa	stomach
16	chr10:55361400-55367000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr10:55361600-55362000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:55362000-55362200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:55362200-55362400	Enhancers	HMEC	breast
20	chr10:55362200-55371400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:55362400-55362600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:55365200-55365400	Enhancers	Fetal Lung	lung
23	chr10:55365400-55366000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr10:55365400-55366000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:55365400-55366000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr10:55365400-55366800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr10:55365600-55366000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr10:55365600-55367200	Weak transcription	Fetal Lung	lung
29	chr10:55365800-55366200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr10:55366000-55371200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr10:55366200-55366400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr10:55366400-55368200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr10:55366600-55368200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr10:55366800-55367000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr10:55366800-55368000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr10:55367000-55367400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr10:55367000-55368000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr10:55367200-55368600	Enhancers	Fetal Lung	lung
39	chr10:55367400-55367800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr10:55367400-55367800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr10:55367800-55376600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr10:55368000-55373200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr10:55368000-55379000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr10:55368200-55373200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr10:55371200-55371800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr10:55371400-55371600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr10:55371400-55371600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:55371600-55381800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:55373200-55373600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr10:55373200-55374000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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