Variant report

Variant	esv3388793
Chromosome Location	chr8:1455370-1457918
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556734928	chr8:1455372-1455373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56268631	chr8:1455373-1455374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539212247	chr8:1455374-1455375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552771343	chr8:1455382-1455383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572781273	chr8:1455391-1455392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374844232	chr8:1455400-1455401	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149437183	chr8:1455404-1455405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561326710	chr8:1455407-1455408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574789550	chr8:1455416-1455417	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543806474	chr8:1455417-1455418	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563733658	chr8:1455427-1455428	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374241431	chr8:1455439-1455440	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550317901	chr8:1455494-1455495	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144915612	chr8:1455496-1455497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532670682	chr8:1455497-1455498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111824000	chr8:1455499-1455500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560020409	chr8:1455500-1455501	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144768128	chr8:1455509-1455510	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548645426	chr8:1455568-1455569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568738925	chr8:1455573-1455574	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62485648	chr8:1455597-1455598	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56156774	chr8:1455602-1455603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570183829	chr8:1455603-1455604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147588721	chr8:1455620-1455621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368643039	chr8:1455628-1455629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57488071	chr8:1455630-1455631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs371143895	chr8:1455633-1455634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370576730	chr8:1455645-1455646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555329151	chr8:1455646-1455647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140445308	chr8:1455662-1455663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188178312	chr8:1455695-1455696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368244598	chr8:1455708-1455709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191679716	chr8:1455712-1455713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11136403	chr8:1455734-1455735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs546357858	chr8:1455742-1455743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559983300	chr8:1455757-1455758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528630743	chr8:1455764-1455765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374906713	chr8:1455771-1455772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182772931	chr8:1455773-1455774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114747264	chr8:1455777-1455778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531256551	chr8:1455794-1455795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550139613	chr8:1455843-1455844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144161436	chr8:1455890-1455891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187805068	chr8:1455891-1455892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546336968	chr8:1455923-1455924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199915955	chr8:1455929-1455930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535257622	chr8:1455930-1455931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147771833	chr8:1455947-1455948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367983826	chr8:1455953-1455954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539247933	chr8:1455957-1455958	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
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1449200-1465200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:1450200-1455800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:1451800-1456200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr8:1452000-1457600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:1455400-1455600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr8:1455600-1457200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:1455800-1456200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:1455800-1458200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:1456000-1456200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr8:1456000-1456200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:1456200-1457400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:1456200-1458400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr8:1456200-1471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:1456800-1457000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr8:1457200-1458200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:1457200-1458200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr8:1457400-1457800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:1457400-1458200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:1457400-1458200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr8:1457400-1458200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:1457600-1458000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:1457600-1458800	Enhancers	Fetal Brain Male	brain
23	chr8:1457600-1458800	Enhancers	Pancreas	Pancrea

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