Variant report

Variant	nsv609980
Chromosome Location	chr8:5916504-6044874
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:15)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:6040393..6043249-chr8:6044843..6046899,2	K562	blood:
2	chr8:5933019..5935981-chr8:5937353..5939270,2	K562	blood:
3	chr8:5933019..5936001-chr8:5936013..5938853,2	K562	blood:
4	chr8:5933019..5935981-chr8:5937353..5939270,2	K562	blood:
5	chr8:5990205..5992800-chr8:5992973..5994775,2	K562	blood:
6	chr8:5990205..5992800-chr8:5992973..5994775,2	K562	blood:
7	chr8:5917249..5917976-chr8:5997130..5997653,2	MCF-7	breast:
8	chr8:5543604..5544126-chr8:5997197..5997756,2	MCF-7	breast:
9	chr8:4919533..4920406-chr8:5997153..5998101,2	MCF-7	breast:
10	chr8:6040393..6043249-chr8:6044843..6046899,2	K562	blood:
11	chr8:5917249..5917976-chr8:5997130..5997653,2	MCF-7	breast:
12	chr8:5797855..5798416-chr8:5934095..5934883,2	MCF-7	breast:
13	chr8:5933019..5936001-chr8:5936013..5938853,2	K562	blood:
14	chr8:4919838..4920394-chr8:5997449..5998189,2	K562	blood:
15	chr10:132324298..132325038-chr8:6023084..6023812,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 5271 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:5271 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11136962	chr8:5916504-5916505	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115269201	chr8:5916507-5916508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11136963	chr8:5916513-5916514	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549945328	chr8:5916524-5916525	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs530869600	chr8:5916535-5916536	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs143453808	chr8:5916599-5916600	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs529102432	chr8:5916603-5916604	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs373880015	chr8:5916604-5916605	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs193209623	chr8:5916629-5916630	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs550710483	chr8:5916636-5916637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs567700521	chr8:5917200-5917201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530129715	chr8:5917202-5917203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547107459	chr8:5917230-5917231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557069352	chr8:5917233-5917234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567050725	chr8:5917234-5917235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539260857	chr8:5917243-5917244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142709448	chr8:5917252-5917253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182273960	chr8:5917255-5917256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143015855	chr8:5917278-5917279	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs10867005	chr8:5917279-5917280	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187237050	chr8:5917383-5917384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374826271	chr8:5917391-5917392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10867006	chr8:5917395-5917396	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553059595	chr8:5917435-5917436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553741767	chr8:5917440-5917441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190966698	chr8:5917442-5917443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544813009	chr8:5917456-5917457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28692596	chr8:5917463-5917464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs530713137	chr8:5917521-5917522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544537737	chr8:5917539-5917540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11136964	chr8:5917541-5917542	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575254708	chr8:5917544-5917545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147316081	chr8:5917569-5917570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560582035	chr8:5917586-5917587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545491876	chr8:5917618-5917619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532710615	chr8:5917636-5917637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552805365	chr8:5917651-5917652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77928377	chr8:5917664-5917665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200833703	chr8:5917666-5917667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78403401	chr8:5917667-5917668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200778459	chr8:5917668-5917669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78288979	chr8:5917684-5917685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138948777	chr8:5917688-5917689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75825489	chr8:5917691-5917692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375210568	chr8:5917696-5917697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548897694	chr8:5917806-5917807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567128435	chr8:5917837-5917838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536267179	chr8:5917840-5917841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575875100	chr8:5917851-5917852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113301442	chr8:5917869-5917870	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5916000-5916600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:5917200-5917600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr8:5917200-5917800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:5917200-5917800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:5917200-5918000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:5917200-5919200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:5918000-5921000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:5921000-5921400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:5923200-5925200	Enhancers	Fetal Brain Male	brain
10	chr8:5923600-5923800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr8:5923600-5924000	Enhancers	Fetal Brain Female	brain
12	chr8:5929800-5930800	Enhancers	Fetal Heart	heart
13	chr8:5930800-5934200	Weak transcription	Fetal Heart	heart
14	chr8:5931400-5932600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:5932000-5932400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr8:5932000-5932400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr8:5932600-5935800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:5934000-5934200	Active TSS	Brain Hippocampus Middle	brain
19	chr8:5934200-5934400	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr8:5934200-5934600	Enhancers	Brain Anterior Caudate	brain
21	chr8:5934200-5934800	Enhancers	Fetal Heart	heart
22	chr8:5934400-5934600	Enhancers	Adipose Nuclei	Adipose
23	chr8:5934400-5934800	Enhancers	Fetal Brain Male	brain
24	chr8:5935800-5936800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:5936200-5936600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:5942800-5943200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:5949000-5949800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:5952600-5953000	Enhancers	Fetal Brain Female	brain
29	chr8:5952800-5954400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:5953000-5954000	Weak transcription	Fetal Brain Female	brain
31	chr8:5953400-5954200	Enhancers	Brain Substantia Nigra	brain
32	chr8:5953600-5954000	Enhancers	Brain Cingulate Gyrus	brain
33	chr8:5954000-5954200	Enhancers	Fetal Brain Male	brain
34	chr8:5954200-5954400	Enhancers	Fetal Brain Female	brain
35	chr8:5954200-5955400	Weak transcription	Fetal Brain Male	brain
36	chr8:5962200-5979000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:5973000-5973600	Enhancers	Brain Anterior Caudate	brain
38	chr8:5973000-5973800	Enhancers	Brain Hippocampus Middle	brain
39	chr8:5973000-5974000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:5973200-5973600	Enhancers	Brain Substantia Nigra	brain
41	chr8:5973600-5974200	Weak transcription	Brain Anterior Caudate	brain
42	chr8:5974200-5974400	Enhancers	Brain Anterior Caudate	brain
43	chr8:5979000-5979200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:5979000-5979200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:5979200-5983200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:5981400-5981800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:5981400-5981800	Enhancers	Brain Cingulate Gyrus	brain
48	chr8:5981600-5982000	Enhancers	Brain Hippocampus Middle	brain
49	chr8:5981600-5982000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr8:5981800-5982000	Enhancers	Fetal Stomach	stomach

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