Variant report

Variant	esv2487014
Chromosome Location	chr8:1598364-1599875
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	chr8:1599745..1602131-chr8:1603017..1606467,3	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4418368	chr8:1598378-1598379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370700119	chr8:1598394-1598395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553881177	chr8:1598459-1598460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116896950	chr8:1598460-1598461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73671287	chr8:1598464-1598465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536270438	chr8:1598486-1598487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528289508	chr8:1598491-1598492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77938416	chr8:1598493-1598494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139740466	chr8:1598518-1598519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568269369	chr8:1598532-1598533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537351088	chr8:1598537-1598538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190846951	chr8:1598619-1598620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183038997	chr8:1598636-1598637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186722590	chr8:1598637-1598638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539164271	chr8:1598653-1598654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190223668	chr8:1598654-1598655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145313434	chr8:1598661-1598662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534908635	chr8:1598727-1598728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147611986	chr8:1598746-1598747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57907915	chr8:1598752-1598753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs111526646	chr8:1598763-1598764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544850370	chr8:1598776-1598777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7005742	chr8:1598787-1598788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs183123618	chr8:1598800-1598801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113035363	chr8:1598801-1598802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7004761	chr8:1598841-1598842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560225279	chr8:1598890-1598891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559034001	chr8:1598919-1598920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59514890	chr8:1598938-1598939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs55645694	chr8:1598941-1598942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528143195	chr8:1598950-1598951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7004932	chr8:1598956-1598957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542612956	chr8:1598973-1598974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566167432	chr8:1598983-1598984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548132927	chr8:1598994-1598995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55932516	chr8:1599006-1599007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56284202	chr8:1599072-1599073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530748168	chr8:1599103-1599104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187456189	chr8:1599116-1599117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151067795	chr8:1599120-1599121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113946850	chr8:1599126-1599127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371003960	chr8:1599161-1599162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191084247	chr8:1599176-1599177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57857745	chr8:1599194-1599195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs535108708	chr8:1599223-1599224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59715571	chr8:1599229-1599230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368445968	chr8:1599246-1599247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183949060	chr8:1599266-1599267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17064159	chr8:1599277-1599278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557244600	chr8:1599278-1599279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1575200-1599400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1599400-1599600	Bivalent Enhancer	Brain Substantia Nigra	brain
3	chr8:1599400-1600000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr8:1599400-1600200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:1599400-1601200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:1599600-1599800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
7	chr8:1599600-1600400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:1599600-1600600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr8:1599600-1601000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:1599600-1601600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:1599800-1600000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
12	chr8:1599800-1600400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:1599800-1600800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:1599800-1601200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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