Variant report

Variant	esv3692956
Chromosome Location	chr8:4303398-4350652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4330073..4332669-chr8:4334409..4336007,2	K562	blood:
2	chr8:4330073..4332669-chr8:4334409..4336694,3	K562	blood:
3	chr8:4330073..4332669-chr8:4334409..4336694,3	K562	blood:
4	chr8:4330073..4332669-chr8:4334409..4336007,2	K562	blood:

Extended variants
information (count: 1552 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:1552 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17070316	chr8:4303398-4303399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544524037	chr8:4303409-4303410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115650094	chr8:4303415-4303416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17070317	chr8:4303418-4303419	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs148898134	chr8:4303419-4303420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187895710	chr8:4303423-4303424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540197948	chr8:4303427-4303428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559228690	chr8:4303429-4303430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115224422	chr8:4303431-4303432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371472146	chr8:4303439-4303440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551602252	chr8:4303449-4303450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73660834	chr8:4303454-4303455	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs17414897	chr8:4303471-4303472	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548783795	chr8:4303472-4303473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567342716	chr8:4303477-4303478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1154066	chr8:4303479-4303480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567327971	chr8:4303481-4303482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143584368	chr8:4303485-4303486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556083668	chr8:4303486-4303487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576299704	chr8:4303500-4303501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148066686	chr8:4303507-4303508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62481013	chr8:4303508-4303509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575725450	chr8:4303510-4303511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141605406	chr8:4303516-4303517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554656410	chr8:4303522-4303523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192140464	chr8:4303533-4303534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540232797	chr8:4303543-4303544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35733229	chr8:4303550-4303551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558816106	chr8:4303557-4303558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114952288	chr8:4303563-4303564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544960613	chr8:4303569-4303570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111778982	chr8:4303571-4303572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144611078	chr8:4303580-4303581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73660835	chr8:4303582-4303583	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560975167	chr8:4303585-4303586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62481014	chr8:4303592-4303593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545679005	chr8:4303594-4303595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6990346	chr8:4303597-4303598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs553109936	chr8:4307003-4307004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186353228	chr8:4307005-4307006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115418474	chr8:4307008-4307009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151158309	chr8:4307010-4307011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569049600	chr8:4307040-4307041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75854779	chr8:4307048-4307049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189244036	chr8:4307053-4307054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566878518	chr8:4307055-4307056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180780312	chr8:4307063-4307064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553243258	chr8:4307070-4307071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541851446	chr8:4307073-4307074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368966352	chr8:4307098-4307099	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
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	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	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
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4303200-4303600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:4307000-4307600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr8:4307200-4307600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:4309200-4310400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:4310400-4312400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:4310800-4311200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:4312400-4313000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:4315400-4316400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:4316400-4317000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:4318400-4319000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:4324400-4325000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:4325600-4325800	Enhancers	Gastric	stomach
13	chr8:4325800-4329000	Weak transcription	Gastric	stomach
14	chr8:4328200-4330800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:4329000-4329400	ZNF genes & repeats	Gastric	stomach
16	chr8:4330800-4331200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:4334400-4335000	Enhancers	Fetal Muscle Trunk	muscle
18	chr8:4335200-4335800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:4335400-4335800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:4338400-4339000	Enhancers	Fetal Heart	heart
21	chr8:4347000-4347400	Enhancers	Gastric	stomach

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