Variant report

Variant	nsv999141
Chromosome Location	chr3:162458327-162508256
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:
2	chr3:162471864..162474454-chr3:162482441..162485010,2	MCF-7	breast:
3	chr3:162471864..162474454-chr3:162482441..162485010,2	MCF-7	breast:
4	chr3:162475543..162478495-chr3:162480272..162482533,2	MCF-7	breast:
5	chr3:162449508..162452375-chr3:162459605..162462257,2	MCF-7	breast:
6	chr3:162468849..162471720-chr3:162897232..162899564,2	K562	blood:
7	chr3:162494680..162495563-chr3:162760633..162761552,3	MCF-7	breast:
8	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:
9	chr3:162475543..162478495-chr3:162480272..162482533,2	MCF-7	breast:

No data

Extended variants
information (count: 1936 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1936 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540214057	chr3:162458366-162458367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1353555	chr3:162458498-162458499	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs554767925	chr3:162458503-162458504	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs183037048	chr3:162458519-162458520	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs570643045	chr3:162458592-162458593	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs187604344	chr3:162458594-162458595	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs563053929	chr3:162458673-162458674	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs141917972	chr3:162458676-162458677	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs545263096	chr3:162458709-162458710	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs545054837	chr3:162458723-162458724	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566678535	chr3:162458739-162458740	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145779754	chr3:162458768-162458769	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs16852192	chr3:162458784-162458785	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192838981	chr3:162458852-162458853	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs184849556	chr3:162458875-162458876	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs138705298	chr3:162458911-162458912	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs115693638	chr3:162458914-162458915	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs568997056	chr3:162458919-162458920	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs547019122	chr3:162458959-162458960	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs116198633	chr3:162459001-162459002	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs551724825	chr3:162459005-162459006	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs561405269	chr3:162459007-162459008	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs187427483	chr3:162459026-162459027	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533814170	chr3:162459079-162459080	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs558908419	chr3:162459140-162459141	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs553764549	chr3:162459278-162459279	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs192278298	chr3:162459293-162459294	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs142764245	chr3:162459295-162459296	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs556496555	chr3:162459307-162459308	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs184842120	chr3:162459357-162459358	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs111790592	chr3:162459382-162459383	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs545175258	chr3:162459418-162459419	Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs189616100	chr3:162459429-162459430	Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs572363275	chr3:162459469-162459470	Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541028591	chr3:162459478-162459479	Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs114601943	chr3:162459514-162459515	Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs148030157	chr3:162459557-162459558	Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs371829954	chr3:162459583-162459584	Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs180836354	chr3:162459629-162459630	Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs1021588	chr3:162459635-162459636	Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs531580872	chr3:162459640-162459641	Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs184248725	chr3:162459648-162459649	Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs571577118	chr3:162459676-162459677	Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs534035675	chr3:162459766-162459767	Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs547439496	chr3:162459836-162459837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189207196	chr3:162459957-162459958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535856218	chr3:162460019-162460020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556253476	chr3:162460020-162460021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141755503	chr3:162460076-162460077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114066517	chr3:162460086-162460087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162439800-162459200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:162456600-162461400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:162458000-162458400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:162458000-162460200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:162458000-162460200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:162458200-162459400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:162458200-162459800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:162458200-162460400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:162458400-162459000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr3:162459000-162459400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr3:162459200-162459800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr3:162459400-162459800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:162459400-162459800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr3:162459800-162460200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:162459800-162461200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:162459800-162461600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:162460200-162460600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:162460200-162461400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:162460200-162463600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:162460400-162461000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:162460600-162461200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:162460600-162461200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:162460800-162461200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:162461000-162461200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:162461200-162462200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:162461200-162462800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr3:162461400-162462600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:162461600-162462400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:162462200-162462400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:162462600-162463200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:162462800-162463000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr3:162463200-162464200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr3:162463600-162465800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr3:162464800-162465800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr3:162465800-162469800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:162466800-162468200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:162468200-162470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:162469800-162470800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:162470200-162471400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr3:162470800-162480400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:162471400-162480400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:162473200-162473600	Enhancers	Dnd41	blood
43	chr3:162473600-162475200	Weak transcription	Dnd41	blood
44	chr3:162475200-162475600	Enhancers	Dnd41	blood
45	chr3:162480200-162481000	Enhancers	Dnd41	blood
46	chr3:162480400-162481200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr3:162480400-162482000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr3:162481000-162483200	Weak transcription	Dnd41	blood
49	chr3:162481200-162482400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:162481200-162483400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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