Variant report

Variant	esv1834232
Chromosome Location	chr3:161581684-161604866
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:161587513..161590442-chr3:161590834..161592884,2	MCF-7	breast:
2	chr3:161588066..161590743-chr3:161592762..161595576,2	MCF-7	breast:
3	chr3:161587513..161590442-chr3:161590834..161592884,2	MCF-7	breast:
4	chr3:161588066..161590743-chr3:161592762..161595576,2	MCF-7	breast:

Extended variants
information (count: 301 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1492146	chr3:161581684-161581685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528405142	chr3:161581757-161581758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144004447	chr3:161581770-161581771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532784351	chr3:161581900-161581901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546252082	chr3:161581928-161581929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6441409	chr3:161581996-161581997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566437247	chr3:161582038-161582039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535316527	chr3:161582042-161582043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147313877	chr3:161582049-161582050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370696912	chr3:161582056-161582057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568997286	chr3:161582094-161582095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141020469	chr3:161582192-161582193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557998611	chr3:161582224-161582225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578124414	chr3:161582259-161582260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540647194	chr3:161582261-161582262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200899825	chr3:161582281-161582282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190506889	chr3:161582282-161582283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182166628	chr3:161582332-161582333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185903303	chr3:161582354-161582355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190037848	chr3:161582358-161582359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538308123	chr3:161582477-161582478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537828468	chr3:161582505-161582506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531847260	chr3:161582558-161582559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556629298	chr3:161582561-161582562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79678570	chr3:161582635-161582636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568657163	chr3:161582679-161582680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377402436	chr3:161582690-161582691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9830058	chr3:161582694-161582695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs151138223	chr3:161582698-161582699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78057934	chr3:161582699-161582700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs66532287	chr3:161582727-161582728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10617026	chr3:161582729-161582730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4856730	chr3:161582755-161582756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11436544	chr3:161582845-161582846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528848070	chr3:161582852-161582853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397821781	chr3:161582856-161582857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115921389	chr3:161582857-161582858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116222709	chr3:161582860-161582861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148155658	chr3:161582868-161582869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375122704	chr3:161582910-161582911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139053163	chr3:161582912-161582913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576924064	chr3:161582936-161582937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550082359	chr3:161582947-161582948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569111345	chr3:161582957-161582958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59591409	chr3:161582961-161582962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551519693	chr3:161583012-161583013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182648078	chr3:161583076-161583077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74957660	chr3:161583083-161583084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534238865	chr3:161583103-161583104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554305897	chr3:161583128-161583129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Prostate cancer	18632612	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
Bladder cancer	21909424	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161578200-161585800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:161578600-161587600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:161583200-161583600	Enhancers	Dnd41	blood
4	chr3:161585800-161586200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:161587600-161588000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:161591200-161591800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:161591200-161592000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:161591400-161591600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:161591600-161592000	Enhancers	Fetal Kidney	kidney
10	chr3:161592800-161593200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:161602200-161603000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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