Variant report

Variant	nsv1000138
Chromosome Location	chr3:162503110-162546217
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	chr3:162118223..162119105-chr3:162517137..162517997,2	MCF-7	breast:
2	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:

Extended variants
information (count: 583 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369772624	chr3:162503228-162503229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs114360916	chr3:162503233-162503234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs536484948	chr3:162503247-162503248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs11926729	chr3:162503288-162503289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs150214	chr3:162503292-162503293	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73167658	chr3:162503302-162503303	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115233715	chr3:162503356-162503357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs150862427	chr3:162503366-162503367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs558547629	chr3:162503396-162503397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs532011659	chr3:162503439-162503440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551519326	chr3:162503440-162503441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571607803	chr3:162503445-162503446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4007776	chr3:162503465-162503466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs4007775	chr3:162503475-162503476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs77966297	chr3:162503494-162503495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181666909	chr3:162503503-162503504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143996314	chr3:162503523-162503524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376045270	chr3:162503524-162503525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186238931	chr3:162503526-162503527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35435212	chr3:162503535-162503536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73167661	chr3:162503539-162503540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190709341	chr3:162503572-162503573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577215385	chr3:162503604-162503605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3866343	chr3:162503617-162503618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79287093	chr3:162503630-162503631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147315052	chr3:162503741-162503742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73011773	chr3:162503744-162503745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs141040754	chr3:162503749-162503750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149659835	chr3:162503757-162503758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145450421	chr3:162503773-162503774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148412391	chr3:162503780-162503781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3866344	chr3:162503783-162503784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs370970400	chr3:162503790-162503791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527647532	chr3:162503811-162503812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142557264	chr3:162503812-162503813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4289366	chr3:162503847-162503848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs541620193	chr3:162503861-162503862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530186018	chr3:162503862-162503863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548937337	chr3:162503896-162503897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569023396	chr3:162503911-162503912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537795939	chr3:162503920-162503921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146469699	chr3:162503922-162503923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140957238	chr3:162503950-162503951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs206288	chr3:162503966-162503967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553329811	chr3:162503976-162503977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573437530	chr3:162503984-162503985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73167664	chr3:162504010-162504011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556529041	chr3:162504047-162504048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144783853	chr3:162504071-162504072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11927727	chr3:162504090-162504091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162503200-162503400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr3:162503400-162519400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:162509200-162512000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:162509800-162511000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:162510000-162511000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:162511400-162512000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr3:162511600-162512000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:162516600-162517800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:162517800-162520400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:162519400-162520800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:162519800-162520800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:162520400-162520800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:162520400-162520800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:162520800-162521800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:162522000-162522200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:162532800-162533400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:162542600-162543000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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