Variant report

Variant	esv3692798
Chromosome Location	chr3:159269142-159302556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 319 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:319 , 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	rs143810854	chr3:159276409-159276410	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs146860461	chr3:159276432-159276433	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs373219402	chr3:159276463-159276464	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs556890848	chr3:159276475-159276476	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs140663066	chr3:159276479-159276480	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs546269279	chr3:159276593-159276594	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs144324970	chr3:159276595-159276596	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs528269916	chr3:159276609-159276610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35610610	chr3:159276654-159276655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371000364	chr3:159276684-159276685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561980402	chr3:159276726-159276727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182908338	chr3:159276794-159276795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75455394	chr3:159276795-159276796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs414774	chr3:159276864-159276865	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs187322760	chr3:159276879-159276880	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs568859795	chr3:159276889-159276890	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs16830453	chr3:159276935-159276936	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs145239816	chr3:159276969-159276970	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs193004840	chr3:159277027-159277028	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs16830454	chr3:159277059-159277060	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568302329	chr3:159277141-159277142	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs535235402	chr3:159277185-159277186	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs9883342	chr3:159277201-159277202	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs376215507	chr3:159277303-159277304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527782137	chr3:159277336-159277337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78811059	chr3:159277367-159277368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556978574	chr3:159277381-159277382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570964769	chr3:159277407-159277408	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs575591508	chr3:159277420-159277421	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs375452028	chr3:159277490-159277491	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs6782081	chr3:159277496-159277497	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182897660	chr3:159277514-159277515	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs114254936	chr3:159277519-159277520	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs73022327	chr3:159277547-159277548	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs540456188	chr3:159277569-159277570	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs575232921	chr3:159277571-159277572	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs149142840	chr3:159277652-159277653	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs187999376	chr3:159277696-159277697	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs544513781	chr3:159277704-159277705	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs574756849	chr3:159277705-159277706	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs562369341	chr3:159277707-159277708	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs532923822	chr3:159277809-159277810	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs551055215	chr3:159277857-159277858	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs192379685	chr3:159277914-159277915	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs372849128	chr3:159277957-159277958	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs143222426	chr3:159277958-159277959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs549424581	chr3:159277992-159277993	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs73874550	chr3:159278012-159278013	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs568307983	chr3:159278013-159278014	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs372170634	chr3:159278045-159278046	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159276400-159276600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
2	chr3:159276600-159276800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:159276800-159277000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:159276800-159277000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr3:159276800-159277200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr3:159277000-159278000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:159277200-159277800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:159277400-159277800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr3:159277400-159277800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:159277400-159278200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:159277400-159278400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:159277600-159277800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr3:159277600-159277800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr3:159277600-159278000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:159277600-159278200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:159277800-159278000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:159277800-159278400	Bivalent Enhancer	HUVEC	blood vessel
18	chr3:159277800-159278600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr3:159277800-159278800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr3:159277800-159279000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr3:159277800-159280200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr3:159277800-159280200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:159277800-159280800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr3:159278000-159278400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:159278000-159278400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:159278000-159278600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:159278000-159278600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:159278000-159278600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr3:159278000-159279800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:159278000-159280600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:159278200-159278600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:159278200-159278800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr3:159278400-159278600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr3:159278400-159278600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
35	chr3:159278400-159279600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:159278600-159278800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:159278600-159278800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:159278600-159278800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:159278600-159279200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr3:159278600-159279800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:159278600-159280400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr3:159278600-159280400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:159278600-159280400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr3:159278800-159279200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:159278800-159279600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr3:159279000-159280000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:159279000-159280600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr3:159279200-159279400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr3:159279200-159280200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr3:159279400-159279600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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