Variant report

Variant	esv2761229
Chromosome Location	chr8:3824446-3824874
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	chr8:3823058..3824890-chr8:3826094..3828395,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2740822	chr8:3824446-3824447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79287279	chr8:3824455-3824456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574288698	chr8:3824497-3824498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541708827	chr8:3824507-3824508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530179361	chr8:3824510-3824511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2407194	chr8:3824516-3824517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545911054	chr8:3824518-3824519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533136967	chr8:3824519-3824520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138269284	chr8:3824524-3824525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2627473	chr8:3824530-3824531	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185824471	chr8:3824531-3824532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56322849	chr8:3824533-3824534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561496440	chr8:3824542-3824543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529062915	chr8:3824565-3824566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547228999	chr8:3824578-3824579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565832717	chr8:3824585-3824586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79739079	chr8:3824591-3824592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529575421	chr8:3824597-3824598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549279494	chr8:3824598-3824599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142862395	chr8:3824603-3824604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569079786	chr8:3824615-3824616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537095958	chr8:3824634-3824635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373648456	chr8:3824645-3824646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76563571	chr8:3824652-3824653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573824614	chr8:3824660-3824661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150651508	chr8:3824662-3824663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188197615	chr8:3824668-3824669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2627472	chr8:3824671-3824672	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545697868	chr8:3824700-3824701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138577177	chr8:3824703-3824704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564481897	chr8:3824731-3824732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2627471	chr8:3824735-3824736	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs539059654	chr8:3824738-3824739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149306772	chr8:3824745-3824746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561037903	chr8:3824750-3824751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528608706	chr8:3824760-3824761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6980578	chr8:3824762-3824763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs76509745	chr8:3824769-3824770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181065178	chr8:3824771-3824772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2627470	chr8:3824773-3824774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569509661	chr8:3824783-3824784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375348666	chr8:3824794-3824795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386721166	chr8:3824796-3824797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74895686	chr8:3824797-3824798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549048235	chr8:3824806-3824807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567349182	chr8:3824807-3824808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534746400	chr8:3824816-3824817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2554503	chr8:3824825-3824826	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs578139317	chr8:3824843-3824844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538914285	chr8:3824845-3824846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Pancreatic ductal adenocarcinoma	19077451	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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3822800-3830000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:3823000-3824800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:3824000-3824600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:3824000-3825200	Enhancers	Fetal Brain Male	brain
5	chr8:3824400-3825000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr8:3824600-3825200	Enhancers	HepG2	liver
7	chr8:3824600-3829400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:3824800-3825200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links