Variant report

Variant	esv2762714
Chromosome Location	chr8:2292235-2322814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:2034544..2035110-chr8:2312572..2313377,2	MCF-7	breast:
2	chr8:2241113..2241844-chr8:2312263..2313095,3	MCF-7	breast:
3	chr8:2308369..2308915-chr8:2671740..2672327,2	MCF-7	breast:
4	chr8:2241044..2242062-chr8:2308231..2309386,4	MCF-7	breast:
5	chr8:2272993..2274539-chr8:2309793..2312114,2	K562	blood:
6	chr8:2314242..2315996-chr8:2321501..2323245,2	K562	blood:
7	chr8:2314242..2315996-chr8:2321501..2323245,2	K562	blood:

Extended variants
information (count: 1069 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:1069 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147484472	chr8:2292270-2292271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187506858	chr8:2292328-2292329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6992567	chr8:2292329-2292330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538923259	chr8:2292385-2292386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143848161	chr8:2292419-2292420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6997681	chr8:2292464-2292465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34267357	chr8:2292468-2292469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553385635	chr8:2292476-2292477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs60448366	chr8:2292486-2292487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574895646	chr8:2292515-2292516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4256620	chr8:2292517-2292518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147318128	chr8:2292527-2292528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7017375	chr8:2292537-2292538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs535681638	chr8:2292539-2292540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557019710	chr8:2292545-2292546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559726153	chr8:2292547-2292548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555168110	chr8:2292554-2292555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192869534	chr8:2292582-2292583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202131317	chr8:2292583-2292584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543520052	chr8:2292630-2292631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563431227	chr8:2292635-2292636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568028388	chr8:2292638-2292639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78823318	chr8:2292643-2292644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550430867	chr8:2292658-2292659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570227998	chr8:2292663-2292664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538884174	chr8:2292675-2292676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148804584	chr8:2292680-2292681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566033356	chr8:2292695-2292696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185794526	chr8:2292700-2292701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554966374	chr8:2292735-2292736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35399556	chr8:2292745-2292746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543879370	chr8:2292756-2292757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557223182	chr8:2292850-2292851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577103750	chr8:2292896-2292897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112548830	chr8:2292940-2292941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559640217	chr8:2292946-2292947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190471607	chr8:2292956-2292957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559338473	chr8:2292966-2292967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528379819	chr8:2292984-2292985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541791308	chr8:2293055-2293056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193219310	chr8:2293061-2293062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372239041	chr8:2293062-2293063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372470983	chr8:2293067-2293068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550641616	chr8:2293079-2293080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570459611	chr8:2293099-2293100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139090209	chr8:2293129-2293130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144016192	chr8:2293131-2293132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565997655	chr8:2293173-2293174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534972053	chr8:2293189-2293190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561769993	chr8:2293212-2293213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	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
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	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
Prostate cancer	18632612	CNVD
Breast cancer	21364760	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
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2283200-2296200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:2296000-2296600	ZNF genes & repeats	Pancreas	Pancrea
3	chr8:2296000-2296800	ZNF genes & repeats	Gastric	stomach
4	chr8:2296200-2296800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:2306800-2307000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:2306800-2307000	Enhancers	Fetal Thymus	thymus
7	chr8:2307600-2307800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:2307800-2308200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:2307800-2308600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:2308000-2308400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:2308000-2308400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:2308000-2308400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:2308000-2308400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:2308000-2308400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:2308600-2312200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:2309200-2309400	Enhancers	Fetal Brain Male	brain
17	chr8:2309400-2311600	Weak transcription	Fetal Brain Male	brain
18	chr8:2311000-2311800	Enhancers	Fetal Heart	heart
19	chr8:2311600-2311800	Enhancers	Fetal Brain Male	brain
20	chr8:2311800-2312400	Weak transcription	Fetal Brain Male	brain
21	chr8:2312000-2312400	Enhancers	Pancreas	Pancrea
22	chr8:2312400-2313200	Enhancers	Fetal Brain Male	brain
23	chr8:2312400-2314800	Weak transcription	Pancreas	Pancrea
24	chr8:2319200-2319400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:2319200-2320400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:2319200-2320800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:2319400-2319800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:2319600-2320400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:2319800-2320800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:2320800-2321000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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