Variant report

Variant	nsv609735
Chromosome Location	chr8:3272206-3281550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 295 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2654484	chr8:3272206-3272207	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112331350	chr8:3272223-3272224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144361254	chr8:3272224-3272225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558465097	chr8:3272239-3272240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570673615	chr8:3272245-3272246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539813084	chr8:3272250-3272251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182166692	chr8:3272270-3272271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73657864	chr8:3272284-3272285	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554934533	chr8:3272308-3272309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574410358	chr8:3272335-3272336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541789968	chr8:3272351-3272352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554137563	chr8:3272368-3272369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148347756	chr8:3272396-3272397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186788288	chr8:3272399-3272400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568349844	chr8:3272401-3272402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112539227	chr8:3272404-3272405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190590658	chr8:3272405-3272406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182417587	chr8:3272407-3272408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531969039	chr8:3272410-3272411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544112582	chr8:3272411-3272412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141221162	chr8:3272413-3272414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185406730	chr8:3272441-3272442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548168981	chr8:3272451-3272452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190217080	chr8:3272452-3272453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537309516	chr8:3272482-3272483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527393728	chr8:3272486-3272487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552278698	chr8:3272518-3272519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17066062	chr8:3272541-3272542	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs73657865	chr8:3272547-3272548	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574212177	chr8:3272559-3272560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114145039	chr8:3272573-3272574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28608695	chr8:3272587-3272588	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535368542	chr8:3272615-3272616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553869185	chr8:3272625-3272626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572449002	chr8:3272636-3272637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73657866	chr8:3272648-3272649	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182837756	chr8:3272653-3272654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73657867	chr8:3272665-3272666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs150739148	chr8:3272671-3272672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544004686	chr8:3272675-3272676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114635167	chr8:3272700-3272701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529603425	chr8:3272710-3272711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs55748924	chr8:3272716-3272717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs559872609	chr8:3272723-3272724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187738707	chr8:3272770-3272771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199942838	chr8:3272774-3272775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs55642600	chr8:3272777-3272778	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183887695	chr8:3272804-3272805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187411617	chr8:3272814-3272815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139529364	chr8:3272833-3272834	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	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Ovarian cancer	22355333	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
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3270400-3274000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:3271200-3274000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:3272000-3272800	Enhancers	Fetal Brain Female	brain
4	chr8:3274000-3274400	Enhancers	Brain Cingulate Gyrus	brain
5	chr8:3274000-3274400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:3274000-3275600	Enhancers	Fetal Heart	heart

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