Variant report

Variant	nsv1016696
Chromosome Location	chr8:5040671-5089101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1672 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:1672 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115478600	chr8:5040671-5040672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61175714	chr8:5040681-5040682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530427391	chr8:5040686-5040687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528036409	chr8:5040719-5040720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573038981	chr8:5040721-5040722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79355292	chr8:5040731-5040732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141354755	chr8:5040734-5040735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576592679	chr8:5040743-5040744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545107512	chr8:5040792-5040793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554066747	chr8:5040810-5040811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11778303	chr8:5040813-5040814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs369430047	chr8:5040814-5040815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs36000134	chr8:5040825-5040826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs561657499	chr8:5040832-5040833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397698948	chr8:5040841-5040842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374788546	chr8:5040842-5040843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528755666	chr8:5040867-5040868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547283418	chr8:5040880-5040881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6987941	chr8:5040905-5040906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375518590	chr8:5040919-5040920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200576431	chr8:5040931-5040932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558747655	chr8:5040937-5040938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187518029	chr8:5040959-5040960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56284089	chr8:5041000-5041001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs536281439	chr8:5041029-5041030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533692348	chr8:5041049-5041050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547855278	chr8:5041053-5041054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139026704	chr8:5041054-5041055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6989350	chr8:5041074-5041075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs143808859	chr8:5041083-5041084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192443176	chr8:5041089-5041090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183393924	chr8:5041101-5041102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148093796	chr8:5041103-5041104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59690385	chr8:5041104-5041105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543032643	chr8:5041105-5041106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147283771	chr8:5041113-5041114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570616488	chr8:5041137-5041138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539790838	chr8:5041147-5041148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540934651	chr8:5041154-5041155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565576651	chr8:5041169-5041170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532796776	chr8:5041182-5041183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551181415	chr8:5041192-5041193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114924758	chr8:5041212-5041213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186554583	chr8:5041231-5041232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565885193	chr8:5041247-5041248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566354011	chr8:5041254-5041255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533496440	chr8:5041274-5041275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552098345	chr8:5041303-5041304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374062737	chr8:5041323-5041324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570402520	chr8:5041330-5041331	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5037800-5044400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:5044400-5045000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr8:5051400-5051800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:5058000-5058400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:5058000-5058600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:5058400-5062000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:5058600-5062200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:5062000-5066800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:5062200-5062800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:5062800-5063200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:5063200-5064400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:5063400-5065600	Enhancers	Fetal Brain Female	brain
13	chr8:5063600-5065600	Enhancers	Brain Germinal Matrix	brain
14	chr8:5063800-5065600	Enhancers	Fetal Brain Male	brain
15	chr8:5064400-5064600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:5064600-5064800	Enhancers	Brain Substantia Nigra	brain
17	chr8:5064600-5065000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:5064600-5065000	Enhancers	Fetal Muscle Leg	muscle
19	chr8:5064600-5065200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:5064600-5065200	Enhancers	Brain Cingulate Gyrus	brain
21	chr8:5064600-5065200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:5064600-5065600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:5065000-5065200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:5065000-5065400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:5065000-5065400	Enhancers	Brain Hippocampus Middle	brain
26	chr8:5065000-5066200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:5065000-5070000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:5065200-5066000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:5065600-5066600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:5066000-5066200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr8:5066200-5066400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:5066200-5066600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:5066200-5070000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:5066400-5066800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:5069200-5069600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:5069600-5070000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:5070000-5070200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:5070000-5070600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:5070000-5070600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:5070000-5071200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr8:5070200-5071000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:5070200-5071000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr8:5071000-5071800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:5073400-5073800	Active TSS	Spleen	Spleen
45	chr8:5082000-5082200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:5082400-5083200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr8:5082800-5083000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:5085000-5085200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr8:5087000-5089000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr8:5087600-5087800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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