Variant report

Variant	nsv889912
Chromosome Location	chr8:3742354-3832731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:3823058..3824890-chr8:3826094..3828395,2	K562	blood:
2	chr8:3809576..3811430-chr8:3818354..3821115,2	K562	blood:
3	chr8:3823058..3824890-chr8:3826094..3828395,2	K562	blood:
4	chr8:3809576..3811430-chr8:3818354..3821115,2	K562	blood:
5	chr8:3804589..3807144-chr8:3807916..3809896,2	K562	blood:
6	chr8:3804589..3807144-chr8:3807916..3809896,2	K562	blood:

Extended variants
information (count: 4304 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:4304 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537220102	chr8:3745804-3745805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186191113	chr8:3745812-3745813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2688381	chr8:3745816-3745817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369423856	chr8:3745838-3745839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567666939	chr8:3745840-3745841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2627348	chr8:3745855-3745856	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs146450484	chr8:3745875-3745876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190173902	chr8:3745892-3745893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2954632	chr8:3745901-3745902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182543405	chr8:3745911-3745912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2627347	chr8:3745920-3745921	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561505149	chr8:3745925-3745926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577925277	chr8:3745927-3745928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78315794	chr8:3745928-3745929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532953938	chr8:3745930-3745931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368490328	chr8:3745933-3745934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551726656	chr8:3745942-3745943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185779738	chr8:3745944-3745945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530790169	chr8:3745945-3745946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115305088	chr8:3745955-3745956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115171270	chr8:3745964-3745965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528584847	chr8:3745967-3745968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140940010	chr8:3745987-3745988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571337233	chr8:3746003-3746004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76339579	chr8:3746013-3746014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369308388	chr8:3746021-3746022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535523216	chr8:3746030-3746031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190603406	chr8:3746032-3746033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377688447	chr8:3746052-3746053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182894311	chr8:3746053-3746054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536904431	chr8:3746060-3746061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188749021	chr8:3746067-3746068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573377267	chr8:3746084-3746085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540815054	chr8:3746085-3746086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556011614	chr8:3746104-3746105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553010264	chr8:3746107-3746108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577747789	chr8:3746139-3746140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs193302700	chr8:3746144-3746145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563243643	chr8:3746147-3746148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530827595	chr8:3746165-3746166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182810549	chr8:3746174-3746175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187489189	chr8:3746180-3746181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528269735	chr8:3746204-3746205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546814576	chr8:3746224-3746225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192162704	chr8:3746283-3746284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571426557	chr8:3746290-3746291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532445480	chr8:3746315-3746316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550565065	chr8:3746316-3746317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568872607	chr8:3746317-3746318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183883075	chr8:3746319-3746320	Enhancers	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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3745800-3746200	Enhancers	Brain Substantia Nigra	brain
2	chr8:3745800-3746200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr8:3745800-3746400	Enhancers	Brain Cingulate Gyrus	brain
4	chr8:3746000-3746200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:3746000-3746200	Enhancers	Brain Angular Gyrus	brain
6	chr8:3751000-3751600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr8:3751200-3751400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:3751200-3751600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:3751200-3751800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:3751400-3751600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:3755400-3755800	Active TSS	Lung	lung
12	chr8:3757600-3758000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:3757600-3758400	Enhancers	Pancreas	Pancrea
14	chr8:3765200-3765600	Enhancers	Fetal Heart	heart
15	chr8:3766600-3768800	Enhancers	Fetal Muscle Leg	muscle
16	chr8:3779200-3779600	Enhancers	Fetal Brain Male	brain
17	chr8:3791200-3791600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:3791600-3793800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:3793800-3794200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr8:3794200-3810000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:3795800-3796400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:3807200-3808200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:3807800-3808200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr8:3807800-3808200	Enhancers	Pancreas	Pancrea
25	chr8:3808200-3809600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:3809600-3810000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:3809600-3810200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:3810000-3810400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:3810200-3811400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:3811200-3811600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:3811400-3811600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:3813800-3814400	Enhancers	HepG2	liver
33	chr8:3816200-3816400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr8:3816200-3816400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:3816200-3817600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr8:3816400-3817000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:3816400-3817200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:3817000-3817600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:3817200-3818000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:3817600-3821000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr8:3817600-3821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr8:3818000-3824000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:3819800-3820400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:3820000-3820200	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr8:3820400-3823600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:3821000-3821600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:3821000-3822800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:3821200-3821400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:3821200-3822000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr8:3821200-3822600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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