Variant report

Variant	nsv1029302
Chromosome Location	chr8:3904707-3989947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6943 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:6943 , 50 per page) page: 1 2 3 4 5 6 7 ... 139

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3849820	chr8:3904717-3904718	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571892759	chr8:3904721-3904722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2554556	chr8:3904730-3904731	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554337903	chr8:3904738-3904739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571683247	chr8:3904759-3904760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78271163	chr8:3904768-3904769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557914029	chr8:3904784-3904785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182824168	chr8:3904785-3904786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187495406	chr8:3904797-3904798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555661198	chr8:3904807-3904808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573987779	chr8:3904814-3904815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142349611	chr8:3904818-3904819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559101878	chr8:3904825-3904826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577651522	chr8:3904828-3904829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544803445	chr8:3904854-3904855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7004524	chr8:3904874-3904875	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs377132656	chr8:3904877-3904878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542819474	chr8:3904881-3904882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561196536	chr8:3904894-3904895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555007488	chr8:3904909-3904910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192691756	chr8:3904928-3904929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79193431	chr8:3904939-3904940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2554555	chr8:3904947-3904948	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544306567	chr8:3904952-3904953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569385554	chr8:3904963-3904964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3860861	chr8:3904973-3904974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78371453	chr8:3904983-3904984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184685873	chr8:3905010-3905011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3849821	chr8:3905014-3905015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567533284	chr8:3905019-3905020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562398620	chr8:3905024-3905025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139117913	chr8:3905031-3905032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552910241	chr8:3905036-3905037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146701323	chr8:3905040-3905041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377568577	chr8:3905041-3905042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375669652	chr8:3905055-3905056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574023233	chr8:3905064-3905065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10701274	chr8:3905066-3905067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs67200346	chr8:3905067-3905068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545076025	chr8:3905068-3905069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188051823	chr8:3905073-3905074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192626787	chr8:3905084-3905085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542780819	chr8:3905093-3905094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561184034	chr8:3905111-3905112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577869339	chr8:3905115-3905116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528762892	chr8:3905126-3905127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184477089	chr8:3905129-3905130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189414772	chr8:3905151-3905152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540109000	chr8:3905159-3905160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182056069	chr8:3905160-3905161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

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
Schizophrenia	23813976	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3902600-3904800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:3904200-3904800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:3904200-3905000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:3904200-3905000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:3904400-3904800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:3904800-3907600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:3904800-3908400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:3905000-3908400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:3905000-3908400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:3907400-3909000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr8:3907600-3910000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:3908200-3908800	Enhancers	Brain Anterior Caudate	brain
13	chr8:3908400-3908600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:3908400-3908800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:3908400-3909000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:3908400-3909000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:3908400-3909000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:3908400-3909000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:3908400-3909200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:3908600-3909400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:3908800-3909200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr8:3908800-3909200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:3909000-3922000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:3909200-3909400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:3909400-3909600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:3909400-3911600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:3911600-3912600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:3918000-3920400	Enhancers	Fetal Heart	heart
29	chr8:3918200-3918400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:3918400-3919400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:3919400-3919800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr8:3919400-3919800	Enhancers	Liver	Liver
33	chr8:3919400-3919800	Enhancers	Fetal Intestine Small	intestine
34	chr8:3919400-3919800	Enhancers	Pancreas	Pancrea
35	chr8:3919400-3920000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:3919600-3919800	Enhancers	Adipose Nuclei	Adipose
37	chr8:3919800-3922000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:3920000-3923000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:3920400-3937000	Weak transcription	Fetal Heart	heart
40	chr8:3921600-3924800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr8:3922000-3922400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr8:3922000-3922800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:3922000-3924800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr8:3922200-3924800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr8:3922200-3924800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr8:3922200-3924800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr8:3922400-3923800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr8:3922600-3923200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr8:3922800-3923600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr8:3922800-3924800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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