Variant report

Variant	nsv931000
Chromosome Location	chr8:3791727-4088167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:3823058..3824890-chr8:3826094..3828395,2	K562	blood:
2	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:
3	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:
4	chr8:3809576..3811430-chr8:3818354..3821115,2	K562	blood:
5	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:
6	chr8:3804589..3807144-chr8:3807916..3809896,2	K562	blood:
7	chr8:3675597..3677848-chr8:3833927..3836270,2	K562	blood:
8	chr8:3823058..3824890-chr8:3826094..3828395,2	K562	blood:
9	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:
10	chr8:3862970..3864915-chr8:3867415..3869991,2	K562	blood:
11	chr8:3862970..3864915-chr8:3867415..3869991,2	K562	blood:
12	chr8:3804589..3807144-chr8:3807916..3809896,2	K562	blood:
13	chr8:3809576..3811430-chr8:3818354..3821115,2	K562	blood:

No data

Extended variants
information (count: 20393 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:20393 , 50 per page) page: 1 2 3 4 5 6 7 ... 408

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542364033	chr8:3791730-3791731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17068051	chr8:3791738-3791739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114504274	chr8:3791740-3791741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180991878	chr8:3791783-3791784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187381820	chr8:3791786-3791787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532259533	chr8:3791795-3791796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115063543	chr8:3791798-3791799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566038037	chr8:3791802-3791803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139386875	chr8:3791818-3791819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575254483	chr8:3791822-3791823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145673596	chr8:3791833-3791834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574347459	chr8:3791842-3791843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566926993	chr8:3791847-3791848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533964930	chr8:3791856-3791857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578201062	chr8:3791857-3791858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540433274	chr8:3791858-3791859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552526235	chr8:3791867-3791868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571199793	chr8:3791874-3791875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371007130	chr8:3791900-3791901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538538653	chr8:3791907-3791908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556851119	chr8:3791919-3791920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575096920	chr8:3791921-3791922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373758741	chr8:3791926-3791927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2688265	chr8:3791939-3791940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147756228	chr8:3791940-3791941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140710976	chr8:3791944-3791945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4370552	chr8:3791948-3791949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192104721	chr8:3791970-3791971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11136680	chr8:3791983-3791984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374095355	chr8:3791986-3791987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377607025	chr8:3791991-3791992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540906368	chr8:3792013-3792014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2059584	chr8:3792016-3792017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs117180435	chr8:3792021-3792022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550572705	chr8:3792035-3792036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560413828	chr8:3792041-3792042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2059583	chr8:3792050-3792051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527773635	chr8:3792053-3792054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113801723	chr8:3792057-3792058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370967116	chr8:3792069-3792070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112288651	chr8:3792096-3792097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538203806	chr8:3792100-3792101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550513049	chr8:3792102-3792103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144646507	chr8:3792104-3792105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183279079	chr8:3792134-3792135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112803725	chr8:3792143-3792144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535700467	chr8:3792148-3792149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533298711	chr8:3792149-3792150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113126747	chr8:3792155-3792156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185686208	chr8:3792159-3792160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:131)

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
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ependymoma	20639864	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3791600-3793800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3793800-3794200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr8:3794200-3810000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:3795800-3796400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:3807200-3808200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:3807800-3808200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr8:3807800-3808200	Enhancers	Pancreas	Pancrea
8	chr8:3808200-3809600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:3809600-3810000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:3809600-3810200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:3810000-3810400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:3810200-3811400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:3811200-3811600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:3811400-3811600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:3813800-3814400	Enhancers	HepG2	liver
16	chr8:3816200-3816400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:3816200-3816400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:3816200-3817600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:3816400-3817000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:3816400-3817200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:3817000-3817600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:3817200-3818000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:3817600-3821000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:3817600-3821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:3818000-3824000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:3819800-3820400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:3820000-3820200	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr8:3820400-3823600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:3821000-3821600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:3821000-3822800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:3821200-3821400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:3821200-3822000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:3821200-3822600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr8:3821400-3821600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:3821400-3822400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr8:3821400-3822400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:3821400-3822800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr8:3821400-3823000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr8:3821400-3823000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr8:3821600-3822000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:3821600-3822000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:3821600-3822200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr8:3821800-3822200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:3821800-3823000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:3822000-3822600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:3822000-3822800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:3822000-3823000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:3822400-3823000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:3822800-3823000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr8:3822800-3830000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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