Variant report

Variant	esv3358196
Chromosome Location	chr8:1325195-1327893
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: 232 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78956956	chr8:1325200-1325201	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563360130	chr8:1325201-1325202	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532151976	chr8:1325202-1325203	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193109403	chr8:1325203-1325204	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185499051	chr8:1325229-1325230	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528351708	chr8:1325236-1325237	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548099706	chr8:1325237-1325238	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568049093	chr8:1325238-1325239	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375274834	chr8:1325274-1325275	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549810771	chr8:1325275-1325276	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572580516	chr8:1325289-1325290	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190367239	chr8:1325303-1325304	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559075983	chr8:1325319-1325320	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74304033	chr8:1325428-1325429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535262789	chr8:1325433-1325434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555283772	chr8:1325434-1325435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575246930	chr8:1325436-1325437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543436545	chr8:1325437-1325438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113399026	chr8:1325439-1325440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113187202	chr8:1325448-1325449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549771594	chr8:1325476-1325477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559469437	chr8:1325477-1325478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181030539	chr8:1325492-1325493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185251223	chr8:1325493-1325494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569595891	chr8:1325536-1325537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188777339	chr8:1325538-1325539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs386720614	chr8:1325546-1325547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549726619	chr8:1325547-1325548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377501518	chr8:1325550-1325551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569969677	chr8:1325559-1325560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150733106	chr8:1325561-1325562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186807118	chr8:1325570-1325571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552369719	chr8:1325580-1325581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540164870	chr8:1325583-1325584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535219358	chr8:1325592-1325593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551772947	chr8:1325593-1325594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555246706	chr8:1325598-1325599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568721758	chr8:1325619-1325620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537750110	chr8:1325642-1325643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191657493	chr8:1325658-1325659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576784001	chr8:1325663-1325664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139099288	chr8:1325665-1325666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541246826	chr8:1325668-1325669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149916075	chr8:1325681-1325682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147140107	chr8:1325685-1325686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140328539	chr8:1325691-1325692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533332433	chr8:1325697-1325698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183428371	chr8:1325704-1325705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4543569	chr8:1325705-1325706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529047266	chr8:1325718-1325719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1315800-1336800	Weak transcription	Right Atrium	heart
2	chr8:1322000-1326400	Weak transcription	Spleen	Spleen
3	chr8:1323200-1326200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:1324200-1325200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
5	chr8:1324200-1325200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr8:1324200-1325200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:1324200-1325400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr8:1324400-1325200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:1324400-1325200	Enhancers	Fetal Brain Female	brain
10	chr8:1324400-1325400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:1324400-1325600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:1324600-1325200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:1324600-1325200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:1324600-1325600	Weak transcription	Brain Germinal Matrix	brain
15	chr8:1324800-1326000	Weak transcription	Brain Anterior Caudate	brain
16	chr8:1324800-1326200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:1324800-1326600	Weak transcription	Fetal Brain Male	brain
18	chr8:1325200-1326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:1325200-1326400	Weak transcription	Fetal Brain Female	brain
20	chr8:1325400-1329600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:1325800-1326000	Enhancers	Brain Germinal Matrix	brain
22	chr8:1326000-1326200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:1326000-1326200	Enhancers	Brain Anterior Caudate	brain
24	chr8:1326200-1326400	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr8:1326200-1326600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:1326200-1326800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:1326200-1326800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:1326400-1326600	ZNF genes & repeats	Pancreas	Pancrea
29	chr8:1326400-1326800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
30	chr8:1326400-1326800	Enhancers	Fetal Brain Female	brain
31	chr8:1326400-1326800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr8:1326400-1326800	ZNF genes & repeats	Spleen	Spleen
33	chr8:1326600-1326800	Enhancers	Fetal Brain Male	brain
34	chr8:1327200-1327800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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