Variant report

Variant	esv3401543
Chromosome Location	chr8:1324345-1328743
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	chr8:1326969..1328954-chr8:1328979..1331750,2	K562	blood:

Extended variants
information (count: 380 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:380 , 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	rs557834214	chr8:1324394-1324395	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs532969335	chr8:1324412-1324413	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs187611532	chr8:1324416-1324417	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs7841237	chr8:1324428-1324429	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs573834450	chr8:1324432-1324433	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs542809333	chr8:1324471-1324472	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs562745770	chr8:1324490-1324491	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs551127128	chr8:1324492-1324493	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs566464183	chr8:1324507-1324508	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs527406692	chr8:1324528-1324529	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs548347196	chr8:1324529-1324530	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs576287043	chr8:1324533-1324534	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs548786043	chr8:1324534-1324535	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs565468943	chr8:1324535-1324536	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs567292784	chr8:1324569-1324570	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs147817600	chr8:1324570-1324571	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs6558461	chr8:1324584-1324585	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs557691795	chr8:1324634-1324635	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529819644	chr8:1324656-1324657	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537343137	chr8:1324660-1324661	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569883051	chr8:1324662-1324663	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141366382	chr8:1324663-1324664	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569534303	chr8:1324686-1324687	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556728865	chr8:1324687-1324688	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552423642	chr8:1324694-1324695	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10094070	chr8:1324695-1324696	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540056930	chr8:1324705-1324706	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6988026	chr8:1324757-1324758	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs760182	chr8:1324764-1324765	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553796232	chr8:1324765-1324766	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150209691	chr8:1324767-1324768	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192812296	chr8:1324770-1324771	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376609142	chr8:1324774-1324775	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534338112	chr8:1324782-1324783	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs760183	chr8:1324825-1324826	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138825439	chr8:1324828-1324829	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576209642	chr8:1324845-1324846	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545307208	chr8:1324868-1324869	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62484185	chr8:1324870-1324871	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113940417	chr8:1324872-1324873	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62484186	chr8:1324873-1324874	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386720613	chr8:1324883-1324884	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62484187	chr8:1324889-1324890	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374229761	chr8:1324892-1324893	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544158310	chr8:1324908-1324909	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs67880847	chr8:1324909-1324910	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371348039	chr8:1324914-1324915	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572697395	chr8:1324921-1324922	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113294974	chr8:1324934-1324935	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113787410	chr8:1324936-1324937	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1315800-1336800	Weak transcription	Right Atrium	heart
2	chr8:1321800-1324400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:1322000-1324400	Weak transcription	Fetal Brain Female	brain
4	chr8:1322000-1326400	Weak transcription	Spleen	Spleen
5	chr8:1323200-1324400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:1323200-1324400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:1323200-1324400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:1323200-1324400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:1323200-1326200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:1324200-1324400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr8:1324200-1324400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:1324200-1324400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:1324200-1324600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
14	chr8:1324200-1324600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr8:1324200-1324800	Enhancers	Brain Anterior Caudate	brain
16	chr8:1324200-1324800	Enhancers	Fetal Brain Male	brain
17	chr8:1324200-1325000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:1324200-1325200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr8:1324200-1325200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr8:1324200-1325200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:1324200-1325400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr8:1324400-1324600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:1324400-1324600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
24	chr8:1324400-1324600	Enhancers	Brain Germinal Matrix	brain
25	chr8:1324400-1324800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr8:1324400-1324800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:1324400-1324800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:1324400-1324800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:1324400-1324800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr8:1324400-1325000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:1324400-1325200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:1324400-1325200	Enhancers	Fetal Brain Female	brain
33	chr8:1324400-1325400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:1324400-1325600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:1324600-1325200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:1324600-1325200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:1324600-1325600	Weak transcription	Brain Germinal Matrix	brain
38	chr8:1324800-1326000	Weak transcription	Brain Anterior Caudate	brain
39	chr8:1324800-1326200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr8:1324800-1326600	Weak transcription	Fetal Brain Male	brain
41	chr8:1325200-1326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:1325200-1326400	Weak transcription	Fetal Brain Female	brain
43	chr8:1325400-1329600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:1325800-1326000	Enhancers	Brain Germinal Matrix	brain
45	chr8:1326000-1326200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:1326000-1326200	Enhancers	Brain Anterior Caudate	brain
47	chr8:1326200-1326400	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr8:1326200-1326600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:1326200-1326800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:1326200-1326800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links