Variant report

Variant	esv1805499
Chromosome Location	chr8:4204386-4219091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 510 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:510 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533022982	chr8:4213200-4213201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549570531	chr8:4213217-4213218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551220586	chr8:4213227-4213228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569326705	chr8:4213234-4213235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2406695	chr8:4213237-4213238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536692129	chr8:4213239-4213240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182831091	chr8:4213253-4213254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567582268	chr8:4213258-4213259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535025548	chr8:4213275-4213276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3990909	chr8:4213293-4213294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138585619	chr8:4213300-4213301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539107986	chr8:4213313-4213314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187105705	chr8:4213315-4213316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76058755	chr8:4213333-4213334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570208345	chr8:4213341-4213342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561281406	chr8:4213348-4213349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73175735	chr8:4213357-4213358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552509336	chr8:4213358-4213359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189965038	chr8:4213359-4213360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138150718	chr8:4213364-4213365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533017812	chr8:4213372-4213373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565069605	chr8:4213375-4213376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551055708	chr8:4213381-4213382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142683862	chr8:4213389-4213390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530532395	chr8:4213390-4213391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541730090	chr8:4213395-4213396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566947605	chr8:4213403-4213404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182282737	chr8:4213408-4213409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547012921	chr8:4213411-4213412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571803367	chr8:4213441-4213442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538909367	chr8:4213445-4213446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376918936	chr8:4213458-4213459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143853892	chr8:4213468-4213469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148614364	chr8:4213483-4213484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375604822	chr8:4213484-4213485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188049511	chr8:4213497-4213498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371251913	chr8:4213514-4213515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554979221	chr8:4213525-4213526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375666658	chr8:4213532-4213533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142089855	chr8:4213547-4213548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575382771	chr8:4213563-4213564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559431668	chr8:4213581-4213582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35237554	chr8:4213585-4213586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544766835	chr8:4213592-4213593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563162075	chr8:4213628-4213629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530495265	chr8:4213631-4213632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374112386	chr8:4213647-4213648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193020603	chr8:4213651-4213652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185295712	chr8:4213659-4213660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547945828	chr8:4213683-4213684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
Schizophrenia	21346763	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4213200-4216000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:4215400-4216000	Enhancers	Fetal Intestine Large	intestine
3	chr8:4215800-4216200	Enhancers	Fetal Muscle Leg	muscle
4	chr8:4216000-4216600	Enhancers	Duodenum Mucosa	Duodenum
5	chr8:4216000-4217000	Weak transcription	Fetal Intestine Large	intestine
6	chr8:4216000-4217600	Enhancers	Fetal Intestine Small	intestine
7	chr8:4216200-4217200	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:4216600-4217600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:4217000-4217600	Enhancers	Fetal Intestine Large	intestine
10	chr8:4217200-4217400	Enhancers	Fetal Muscle Leg	muscle
11	chr8:4217600-4217800	Enhancers	Duodenum Mucosa	Duodenum

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