Variant report

Variant	esv3399213
Chromosome Location	chr3:161477299-161497158
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	chr3:161472760..161474501-chr3:161478505..161480497,2	K562	blood:

Extended variants
information (count: 381 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188875255	chr3:161477327-161477328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200942580	chr3:161477346-161477347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77936710	chr3:161477354-161477355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75456286	chr3:161477355-161477356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9843397	chr3:161477375-161477376	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575955327	chr3:161477380-161477381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543534556	chr3:161477401-161477402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145716294	chr3:161477403-161477404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147769710	chr3:161477462-161477463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192329077	chr3:161477477-161477478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9843555	chr3:161477490-161477491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9881108	chr3:161477496-161477497	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548109615	chr3:161477521-161477522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561534576	chr3:161477595-161477596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530576420	chr3:161477620-161477621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184869428	chr3:161477669-161477670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148834010	chr3:161477718-161477719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539564888	chr3:161477762-161477763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548660822	chr3:161477773-161477774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs172624	chr3:161483418-161483419	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs140358558	chr3:161483419-161483420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577814354	chr3:161483520-161483521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184634207	chr3:161483549-161483550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371340476	chr3:161483550-161483551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543529219	chr3:161483596-161483597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572084720	chr3:161483609-161483610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563839168	chr3:161483610-161483611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374853811	chr3:161483619-161483620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188444181	chr3:161483664-161483665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367633706	chr3:161483683-161483684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577435930	chr3:161483708-161483709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529244924	chr3:161483712-161483713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146448894	chr3:161483742-161483743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200540136	chr3:161483756-161483757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs193215518	chr3:161483795-161483796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553527176	chr3:161483803-161483804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543047838	chr3:161483833-161483834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573514887	chr3:161483855-161483856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9880135	chr3:161483874-161483875	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs62278613	chr3:161483892-161483893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145537359	chr3:161483901-161483902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs16833340	chr3:161483917-161483918	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs543371760	chr3:161483918-161483919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370571519	chr3:161483954-161483955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200804683	chr3:161483970-161483971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563171910	chr3:161484079-161484080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148066019	chr3:161484101-161484102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141394999	chr3:161484115-161484116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536125342	chr3:161484116-161484117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150826349	chr3:161484209-161484210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161476400-161477800	Enhancers	Dnd41	blood
2	chr3:161477400-161477600	Enhancers	Placenta	Placenta
3	chr3:161483400-161484200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr3:161483800-161484800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:161483800-161485000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:161484200-161484600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:161484200-161484600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:161484200-161484600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr3:161484200-161484600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:161484200-161484800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:161484200-161484800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:161484600-161484800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr3:161484800-161486000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:161486000-161486200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr3:161486200-161486600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:161486200-161488400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:161487600-161488000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:161487600-161489600	Enhancers	Primary hematopoietic stem cells	blood
19	chr3:161487800-161488800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:161487800-161489200	Enhancers	GM12878-XiMat	blood
21	chr3:161487800-161489400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr3:161488000-161488200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:161488000-161488600	Enhancers	NH-A	brain
24	chr3:161488000-161490400	Enhancers	Dnd41	blood
25	chr3:161488200-161488600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:161488400-161488600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr3:161488600-161489000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:161488800-161490400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:161489000-161489400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:161489200-161489400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr3:161490400-161490800	Weak transcription	Dnd41	blood
32	chr3:161490800-161492800	Enhancers	Dnd41	blood
33	chr3:161497000-161507200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links