Variant report

Variant	nsv1021318
Chromosome Location	chr8:5899704-6021788
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:14)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:5933019..5936001-chr8:5936013..5938853,2	K562	blood:
2	chr8:5917249..5917976-chr8:5997130..5997653,2	MCF-7	breast:
3	chr8:4919533..4920406-chr8:5997153..5998101,2	MCF-7	breast:
4	chr8:5933019..5935981-chr8:5937353..5939270,2	K562	blood:
5	chr8:5917249..5917976-chr8:5997130..5997653,2	MCF-7	breast:
6	chr8:5905980..5908043-chr8:5909546..5912210,2	K562	blood:
7	chr8:5905980..5908043-chr8:5909546..5912210,2	K562	blood:
8	chr8:5933019..5936001-chr8:5936013..5938853,2	K562	blood:
9	chr8:4919838..4920394-chr8:5997449..5998189,2	K562	blood:
10	chr8:5990205..5992800-chr8:5992973..5994775,2	K562	blood:
11	chr8:5797855..5798416-chr8:5934095..5934883,2	MCF-7	breast:
12	chr8:5933019..5935981-chr8:5937353..5939270,2	K562	blood:
13	chr8:5543604..5544126-chr8:5997197..5997756,2	MCF-7	breast:
14	chr8:5990205..5992800-chr8:5992973..5994775,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-3	chr8:5923520-5923650	XLOC_006984
2	lnc-ANGPT2-3	chr8:5916524-5916600	ENSG00000253880
3	lnc-ANGPT2-3	chr8:5917266-5917339	XLOC_006984
4	lnc-ANGPT2-3	chr8:5917266-5917339	ENSG00000253880
5	lnc-ANGPT2-3	chr8:5916281-5916302	XLOC_006984
6	lnc-ANGPT2-3	chr8:5957850-5957973	ENSG00000253880
7	lnc-ANGPT2-3	chr8:5901875-5902047	ENSG00000253880
8	lnc-ANGPT2-3	chr8:5916524-5916659	XLOC_006984

No data

Variant related genes	Relation type
ACVR1B	miRNA target sites
ACVR2A	miRNA target sites

Extended variants
information (count: 6082 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:6082 , 50 per page) page: 1 2 3 4 5 6 7 ... 122

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546728975	chr8:5900220-5900221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117045321	chr8:5900232-5900233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561159855	chr8:5900261-5900262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528658187	chr8:5900274-5900275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566187590	chr8:5900277-5900278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548269100	chr8:5900287-5900288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201359348	chr8:5900305-5900306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375945208	chr8:5900311-5900312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532442852	chr8:5900314-5900315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550994783	chr8:5900391-5900392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111492376	chr8:5900394-5900395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569231806	chr8:5900416-5900417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115864611	chr8:5900446-5900447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140152486	chr8:5900453-5900454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578082290	chr8:5900459-5900460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143681212	chr8:5900487-5900488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533971891	chr8:5900508-5900509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558407820	chr8:5900543-5900544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570521182	chr8:5900584-5900585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190412442	chr8:5900588-5900589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370691656	chr8:5900589-5900590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574059473	chr8:5900634-5900635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542934030	chr8:5900650-5900651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74712763	chr8:5900652-5900653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112084506	chr8:5900674-5900675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573392113	chr8:5900802-5900803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539764329	chr8:5900807-5900808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540812627	chr8:5900842-5900843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565286021	chr8:5900850-5900851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530184919	chr8:5900862-5900863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139486876	chr8:5900877-5900878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544679354	chr8:5900883-5900884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183038660	chr8:5900891-5900892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530093409	chr8:5900917-5900918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573722735	chr8:5900933-5900934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142811257	chr8:5900938-5900939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548534692	chr8:5900940-5900941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560383615	chr8:5900944-5900945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188467051	chr8:5900962-5900963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552352514	chr8:5900990-5900991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150998809	chr8:5900991-5900992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537960410	chr8:5901007-5901008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549436286	chr8:5901008-5901009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567747532	chr8:5901071-5901072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113614681	chr8:5901094-5901095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4875217	chr8:5901098-5901099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs372247999	chr8:5901107-5901108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573479410	chr8:5901121-5901122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75850954	chr8:5901130-5901131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73508518	chr8:5901137-5901138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20688739	CNVD
Renal cell carcinoma	21215367	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5900200-5902400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:5902400-5903000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:5902800-5903000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr8:5903000-5909400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:5904200-5904400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr8:5904200-5907800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:5906000-5906200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr8:5906400-5907200	Enhancers	Fetal Muscle Trunk	muscle
9	chr8:5907800-5908400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:5907800-5908400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:5907800-5908400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:5907800-5908400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:5907800-5908400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:5908000-5908600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:5908000-5908600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:5908000-5908600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:5908200-5908600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:5909400-5909600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:5909600-5910000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:5910000-5916400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:5916000-5916600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:5917200-5917600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:5917200-5917800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:5917200-5917800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:5917200-5918000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:5917200-5919200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:5918000-5921000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:5921000-5921400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:5923200-5925200	Enhancers	Fetal Brain Male	brain
30	chr8:5923600-5923800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr8:5923600-5924000	Enhancers	Fetal Brain Female	brain
32	chr8:5929800-5930800	Enhancers	Fetal Heart	heart
33	chr8:5930800-5934200	Weak transcription	Fetal Heart	heart
34	chr8:5931400-5932600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:5932000-5932400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr8:5932000-5932400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr8:5932600-5935800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:5934000-5934200	Active TSS	Brain Hippocampus Middle	brain
39	chr8:5934200-5934400	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr8:5934200-5934600	Enhancers	Brain Anterior Caudate	brain
41	chr8:5934200-5934800	Enhancers	Fetal Heart	heart
42	chr8:5934400-5934600	Enhancers	Adipose Nuclei	Adipose
43	chr8:5934400-5934800	Enhancers	Fetal Brain Male	brain
44	chr8:5935800-5936800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:5936200-5936600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:5942800-5943200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:5949000-5949800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:5952600-5953000	Enhancers	Fetal Brain Female	brain
49	chr8:5952800-5954400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr8:5953000-5954000	Weak transcription	Fetal Brain Female	brain

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