Variant report

Variant	nsv523983
Chromosome Location	chr8:5863786-5866081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2141640	chr8:5863786-5863787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558485034	chr8:5863790-5863791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577946995	chr8:5863857-5863858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546269381	chr8:5863865-5863866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187708424	chr8:5863869-5863870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140221098	chr8:5863881-5863882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555956698	chr8:5863889-5863890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115730845	chr8:5863912-5863913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2816496	chr8:5863913-5863914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192324445	chr8:5863918-5863919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575427904	chr8:5863933-5863934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145262780	chr8:5863940-5863941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184767560	chr8:5863967-5863968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188727514	chr8:5863977-5863978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192083600	chr8:5864007-5864008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533108183	chr8:5864029-5864030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs118101116	chr8:5864035-5864036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2703204	chr8:5864043-5864044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35551167	chr8:5864053-5864054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184722881	chr8:5864097-5864098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534253226	chr8:5864098-5864099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60942918	chr8:5864120-5864121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2700736	chr8:5864122-5864123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs138995376	chr8:5864134-5864135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140605866	chr8:5864135-5864136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574614535	chr8:5864141-5864142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541667193	chr8:5864154-5864155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189438893	chr8:5864194-5864195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78717549	chr8:5864254-5864255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150495942	chr8:5864263-5864264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531934271	chr8:5864303-5864304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531893425	chr8:5864304-5864305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377003926	chr8:5864307-5864308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370058786	chr8:5864325-5864326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138266657	chr8:5864336-5864337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544970379	chr8:5864339-5864340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551399576	chr8:5864347-5864348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200987599	chr8:5864388-5864389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112987118	chr8:5864390-5864391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373395009	chr8:5864391-5864392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs5889143	chr8:5864393-5864394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373938455	chr8:5864395-5864396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2703205	chr8:5864398-5864399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548502649	chr8:5864402-5864403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181804994	chr8:5864415-5864416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187196464	chr8:5864452-5864453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149623764	chr8:5864479-5864480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552237351	chr8:5864482-5864483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114234951	chr8:5864495-5864496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12547545	chr8:5864501-5864502	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
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
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
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	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
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5863000-5870200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:5865600-5866200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:5865600-5866200	Enhancers	Fetal Heart	heart
4	chr8:5865600-5866200	Enhancers	Hela-S3	cervix
5	chr8:5865800-5866200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr8:5865800-5866200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:5866000-5866200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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