Variant report

Variant	nsv1025975
Chromosome Location	chr8:5907606-5982477
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:8)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:5905980..5908043-chr8:5909546..5912210,2	K562	blood:
2	chr8:5933019..5935981-chr8:5937353..5939270,2	K562	blood:
3	chr8:5933019..5935981-chr8:5937353..5939270,2	K562	blood:
4	chr8:5905980..5908043-chr8:5909546..5912210,2	K562	blood:
5	chr8:5933019..5936001-chr8:5936013..5938853,2	K562	blood:
6	chr8:5933019..5936001-chr8:5936013..5938853,2	K562	blood:
7	chr8:5797855..5798416-chr8:5934095..5934883,2	MCF-7	breast:
8	chr8:5917249..5917976-chr8:5997130..5997653,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 3622 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:3622 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9644296	chr8:5907606-5907607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73184637	chr8:5907633-5907634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28702625	chr8:5907647-5907648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs371691862	chr8:5907651-5907652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191422740	chr8:5907657-5907658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4875687	chr8:5907664-5907665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7004106	chr8:5907679-5907680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144482806	chr8:5907696-5907697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548957820	chr8:5907700-5907701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559391104	chr8:5907715-5907716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528137706	chr8:5907719-5907720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112712862	chr8:5907723-5907724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551487758	chr8:5907725-5907726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6984627	chr8:5907748-5907749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536818463	chr8:5907753-5907754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6983516	chr8:5907758-5907759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183902935	chr8:5907773-5907774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10111036	chr8:5907783-5907784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs6984659	chr8:5907797-5907798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566519570	chr8:5907800-5907801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151122034	chr8:5907825-5907826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558604316	chr8:5907842-5907843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575713482	chr8:5907862-5907863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554600431	chr8:5907863-5907864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74672276	chr8:5907864-5907865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141024987	chr8:5907897-5907898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150246338	chr8:5907903-5907904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138917359	chr8:5907921-5907922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200368900	chr8:5907936-5907937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34853849	chr8:5907938-5907939	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs6984956	chr8:5907939-5907940	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545047780	chr8:5907940-5907941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181538646	chr8:5907941-5907942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530640988	chr8:5907959-5907960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550457213	chr8:5908061-5908062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7004763	chr8:5908063-5908064	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546473953	chr8:5908073-5908074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566457730	chr8:5908084-5908085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556922007	chr8:5908085-5908086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558522387	chr8:5908095-5908096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115276729	chr8:5908119-5908120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567219828	chr8:5908138-5908139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185714848	chr8:5908145-5908146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111559677	chr8:5908147-5908148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190259275	chr8:5908151-5908152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57063702	chr8:5908178-5908179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78260072	chr8:5908194-5908195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181981460	chr8:5908195-5908196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375323009	chr8:5908209-5908210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187455328	chr8:5908234-5908235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	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

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5903000-5909400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:5904200-5907800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:5907800-5908400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:5907800-5908400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:5907800-5908400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:5907800-5908400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:5907800-5908400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:5908000-5908600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:5908000-5908600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:5908000-5908600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:5908200-5908600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:5909400-5909600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:5909600-5910000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:5910000-5916400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:5916000-5916600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:5917200-5917600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:5917200-5917800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:5917200-5917800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:5917200-5918000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:5917200-5919200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:5918000-5921000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:5921000-5921400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:5923200-5925200	Enhancers	Fetal Brain Male	brain
24	chr8:5923600-5923800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr8:5923600-5924000	Enhancers	Fetal Brain Female	brain
26	chr8:5929800-5930800	Enhancers	Fetal Heart	heart
27	chr8:5930800-5934200	Weak transcription	Fetal Heart	heart
28	chr8:5931400-5932600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:5932000-5932400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr8:5932000-5932400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr8:5932600-5935800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:5934000-5934200	Active TSS	Brain Hippocampus Middle	brain
33	chr8:5934200-5934400	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr8:5934200-5934600	Enhancers	Brain Anterior Caudate	brain
35	chr8:5934200-5934800	Enhancers	Fetal Heart	heart
36	chr8:5934400-5934600	Enhancers	Adipose Nuclei	Adipose
37	chr8:5934400-5934800	Enhancers	Fetal Brain Male	brain
38	chr8:5935800-5936800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:5936200-5936600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:5942800-5943200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:5949000-5949800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:5952600-5953000	Enhancers	Fetal Brain Female	brain
43	chr8:5952800-5954400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr8:5953000-5954000	Weak transcription	Fetal Brain Female	brain
45	chr8:5953400-5954200	Enhancers	Brain Substantia Nigra	brain
46	chr8:5953600-5954000	Enhancers	Brain Cingulate Gyrus	brain
47	chr8:5954000-5954200	Enhancers	Fetal Brain Male	brain
48	chr8:5954200-5954400	Enhancers	Fetal Brain Female	brain
49	chr8:5954200-5955400	Weak transcription	Fetal Brain Male	brain
50	chr8:5962200-5979000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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