Variant report

Variant	nsv24485
Chromosome Location	chr10:54644725-54648808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 168 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs11003244	chr10:54644745-54644746	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376749870	chr10:54644767-54644768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187027775	chr10:54644770-54644771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373475984	chr10:54644789-54644790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376371168	chr10:54644792-54644793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561183318	chr10:54644832-54644833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574746164	chr10:54644856-54644857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370959384	chr10:54644863-54644864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61846799	chr10:54644865-54644866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113086208	chr10:54644867-54644868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540432631	chr10:54644875-54644876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370646174	chr10:54644901-54644902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573839101	chr10:54644932-54644933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11003245	chr10:54644953-54644954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs182827642	chr10:54644956-54644957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552023875	chr10:54644998-54644999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562578393	chr10:54645035-54645036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188281530	chr10:54645052-54645053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548131884	chr10:54645059-54645060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568422004	chr10:54645085-54645086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527931128	chr10:54645089-54645090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547681438	chr10:54645158-54645159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372325954	chr10:54645176-54645177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566356965	chr10:54645193-54645194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193186790	chr10:54645199-54645200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528726984	chr10:54645200-54645201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540007524	chr10:54645226-54645227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113238916	chr10:54645241-54645242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141297975	chr10:54645245-54645246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570101630	chr10:54645256-54645257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386743768	chr10:54645322-54645323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11315400	chr10:54645336-54645337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535491770	chr10:54645340-54645341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200235064	chr10:54645345-54645346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201733441	chr10:54645346-54645347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113808041	chr10:54645347-54645348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371103848	chr10:54645348-54645349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139571124	chr10:54645349-54645350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145219503	chr10:54645356-54645357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147013263	chr10:54645382-54645383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572470181	chr10:54645430-54645431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545329167	chr10:54645431-54645432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185417038	chr10:54645436-54645437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11003246	chr10:54645437-54645438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7893804	chr10:54645455-54645456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577539966	chr10:54645461-54645462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148048879	chr10:54645471-54645472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140882305	chr10:54645531-54645532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537114646	chr10:54645536-54645537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190718176	chr10:54645568-54645569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54641000-54653600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:54642600-54647000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr10:54643800-54645200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:54644600-54645400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr10:54644600-54647000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:54644600-54647200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr10:54644600-54647200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:54644600-54647200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr10:54644600-54647200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr10:54644600-54651600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr10:54645200-54649400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:54645400-54645600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr10:54645600-54646200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:54646200-54646400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr10:54647000-54647600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr10:54647000-54648000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr10:54647200-54647400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr10:54647200-54647800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr10:54647200-54647800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr10:54647200-54648000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr10:54647200-54648000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:54647200-54648000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr10:54647800-54651600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr10:54647800-54652000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr10:54648000-54651600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr10:54648000-54653200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links