Variant report

Variant	nsv1024323
Chromosome Location	chr8:3401210-3423073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1030 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:1030 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370200953	chr8:3406005-3406006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143664397	chr8:3406007-3406008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537531561	chr8:3406034-3406035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188603359	chr8:3406077-3406078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555968822	chr8:3406115-3406116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114543091	chr8:3406130-3406131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115036078	chr8:3406138-3406139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527275624	chr8:3406139-3406140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12056737	chr8:3406150-3406151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554041643	chr8:3406160-3406161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146360407	chr8:3406181-3406182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572199134	chr8:3406199-3406200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56374329	chr8:3406223-3406224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116129344	chr8:3406247-3406248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138799565	chr8:3406249-3406250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576641783	chr8:3406250-3406251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77466467	chr8:3406255-3406256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77694586	chr8:3406279-3406280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7459738	chr8:3406285-3406286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541220099	chr8:3406286-3406287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149589686	chr8:3406287-3406288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374988902	chr8:3406292-3406293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76916776	chr8:3406316-3406317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144265919	chr8:3406318-3406319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191162785	chr8:3406320-3406321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75658441	chr8:3406327-3406328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531177974	chr8:3406332-3406333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148728486	chr8:3406338-3406339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567772784	chr8:3406340-3406341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538588801	chr8:3406361-3406362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371923415	chr8:3406382-3406383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535639458	chr8:3406392-3406393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553679175	chr8:3406393-3406394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566002928	chr8:3406402-3406403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs74797825	chr8:3406404-3406405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs74689115	chr8:3406413-3406414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs76209574	chr8:3406420-3406421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs555901899	chr8:3406422-3406423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs574047563	chr8:3406430-3406431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs535022666	chr8:3406440-3406441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs116685337	chr8:3406456-3406457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141414513	chr8:3406465-3406466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs77610639	chr8:3406472-3406473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs369429168	chr8:3406475-3406476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs79119254	chr8:3406491-3406492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs80216085	chr8:3406512-3406513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs117043868	chr8:3406513-3406514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs76174908	chr8:3406515-3406516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs78309366	chr8:3406535-3406536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs568191952	chr8:3406585-3406586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
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
Lung squamous cell carcinoma	22363434	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3406000-3406400	Weak transcription	Spleen	Spleen
2	chr8:3406400-3406800	ZNF genes & repeats	Spleen	Spleen
3	chr8:3408000-3408400	Enhancers	H9 Cell Line	embryonic stem cell
4	chr8:3408200-3408400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:3408200-3408400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:3408200-3409000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:3408200-3410200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr8:3408400-3409800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:3408400-3411800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:3408400-3412000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:3409000-3409400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:3409200-3409400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr8:3409400-3410000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:3409400-3410200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:3409400-3410200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:3409400-3410200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:3409400-3410200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:3409400-3410200	Enhancers	Liver	Liver
19	chr8:3409400-3410200	Enhancers	Fetal Lung	lung
20	chr8:3409600-3410200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:3409800-3410200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:3410000-3410200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr8:3410000-3412000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:3410200-3411600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:3410200-3411600	Weak transcription	Liver	Liver
26	chr8:3410200-3412000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:3410200-3412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:3411600-3412800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr8:3411600-3412800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:3411600-3413000	Enhancers	Liver	Liver
31	chr8:3411800-3412000	Enhancers	Fetal Lung	lung
32	chr8:3411800-3412200	Enhancers	Lung	lung
33	chr8:3411800-3412400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:3411800-3412800	Enhancers	Fetal Heart	heart
35	chr8:3412000-3412200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr8:3412000-3412400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:3412000-3412600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr8:3412000-3412600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:3412000-3412800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr8:3412000-3412800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:3412000-3413000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr8:3412200-3412400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:3412200-3412600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:3413000-3414000	Weak transcription	Liver	Liver
45	chr8:3413000-3415800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:3413400-3417200	Weak transcription	Brain Angular Gyrus	brain
47	chr8:3414000-3417000	Enhancers	Liver	Liver
48	chr8:3414200-3414400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:3414200-3414400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr8:3414400-3417400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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