Variant report

Variant	nsv609797
Chromosome Location	chr8:3863732-3898433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:3862970..3864915-chr8:3867415..3869991,2	K562	blood:
2	chr8:3862970..3864915-chr8:3867415..3869991,2	K562	blood:

Extended variants
information (count: 2128 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:2128 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2740968	chr8:3863732-3863733	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141161067	chr8:3863745-3863746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11778052	chr8:3863754-3863755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs150310571	chr8:3863757-3863758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs137986363	chr8:3863758-3863759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149493824	chr8:3863763-3863764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570408402	chr8:3863777-3863778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17068516	chr8:3863791-3863792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs555747379	chr8:3863794-3863795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574023214	chr8:3863822-3863823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535097951	chr8:3863834-3863835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553088249	chr8:3863838-3863839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187047539	chr8:3863860-3863861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545643566	chr8:3863866-3863867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563994481	chr8:3863872-3863873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576292187	chr8:3863876-3863877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3109775	chr8:3863916-3863917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146363786	chr8:3863919-3863920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191051198	chr8:3863923-3863924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528907177	chr8:3863949-3863950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182660038	chr8:3863963-3863964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559530013	chr8:3863967-3863968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533562741	chr8:3863972-3863973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185004141	chr8:3863973-3863974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139720130	chr8:3863976-3863977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537770469	chr8:3863980-3863981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549440965	chr8:3863981-3863982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567636884	chr8:3863985-3863986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534752160	chr8:3863990-3863991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375845997	chr8:3863995-3863996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143042834	chr8:3863999-3864000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146158077	chr8:3864002-3864003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576227846	chr8:3864020-3864021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536898732	chr8:3864023-3864024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555407082	chr8:3864027-3864028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140010143	chr8:3864090-3864091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189909696	chr8:3864105-3864106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77326335	chr8:3864106-3864107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2912297	chr8:3864110-3864111	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545591022	chr8:3864125-3864126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563885874	chr8:3864135-3864136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183205299	chr8:3864138-3864139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78579088	chr8:3864161-3864162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559067229	chr8:3864166-3864167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549644265	chr8:3864176-3864177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116031290	chr8:3864192-3864193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180744132	chr8:3876005-3876006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs144206550	chr8:3876014-3876015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs560681257	chr8:3876107-3876108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551311702	chr8:3876109-3876110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3862600-3863800	Enhancers	Fetal Brain Female	brain
2	chr8:3862800-3864000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:3862800-3864000	Enhancers	Fetal Brain Male	brain
4	chr8:3863200-3864200	Enhancers	Brain Germinal Matrix	brain
5	chr8:3876000-3876200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:3876200-3879200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:3876400-3879200	Enhancers	Fetal Heart	heart
8	chr8:3884600-3887400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:3887400-3888000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:3888000-3889400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr8:3889000-3889400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:3889400-3889600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:3889400-3889600	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:3889600-3896000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:3889600-3904400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:3896000-3897800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:3896000-3898200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:3896200-3896400	Enhancers	Fetal Lung	lung
19	chr8:3896200-3896400	Enhancers	Fetal Muscle Leg	muscle
20	chr8:3896200-3897000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:3896200-3897000	Enhancers	Brain Angular Gyrus	brain
22	chr8:3896200-3897400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:3896200-3897600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:3896200-3899200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:3896400-3896800	Flanking Active TSS	Fetal Lung	lung
26	chr8:3896400-3896800	Active TSS	Fetal Muscle Leg	muscle
27	chr8:3896400-3897000	Active TSS	Brain Anterior Caudate	brain
28	chr8:3896400-3897400	Enhancers	Adipose Nuclei	Adipose
29	chr8:3896400-3898200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:3896600-3897400	Enhancers	Liver	Liver
31	chr8:3896600-3898400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:3896600-3898400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr8:3896800-3897200	Enhancers	Fetal Muscle Leg	muscle
34	chr8:3896800-3897400	Enhancers	Fetal Heart	heart
35	chr8:3896800-3897600	Enhancers	Fetal Lung	lung
36	chr8:3896800-3898000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:3896800-3898400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:3897000-3897400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr8:3897000-3897600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:3897400-3897800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:3897400-3904200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:3897600-3898200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr8:3897600-3899400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:3897800-3898400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr8:3898400-3899800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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