Variant report

Variant	nsv515694
Chromosome Location	chr8:19821233-19824896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19796366..19798853-chr8:19819344..19821479,2	K562	blood:
2	chr8:19820325..19822189-chr8:19825271..19827083,2	K562	blood:
3	chr8:19811879..19814750-chr8:19820326..19823164,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	LPL	hsa-miR-29a-3p	chr8:19824603-19824624
2	LPL	hsa-miR-29a-3p	chr8:19824617-19824624

Variant related genes	Relation type
ENSG00000175445	chromatin interactions

Extended variants
information (count: 195 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17116619	chr8:19821233-19821234	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs28439839	chr8:19821247-19821248	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553148176	chr8:19821263-19821264	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571780044	chr8:19821297-19821298	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539178414	chr8:19821324-19821325	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557583406	chr8:19821365-19821366	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs28424158	chr8:19821386-19821387	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376904213	chr8:19821397-19821398	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544646727	chr8:19821400-19821401	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75278536	chr8:19821425-19821426	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537285798	chr8:19821450-19821451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201109344	chr8:19821466-19821467	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs28716400	chr8:19821467-19821468	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs146265243	chr8:19821468-19821469	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139998128	chr8:19821484-19821485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143474380	chr8:19821512-19821513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532862836	chr8:19821515-19821516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527911091	chr8:19821518-19821519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530384741	chr8:19821521-19821522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544733083	chr8:19821576-19821577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373596531	chr8:19821592-19821593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181023596	chr8:19821607-19821608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530634173	chr8:19821633-19821634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115078054	chr8:19821635-19821636	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550646065	chr8:19821638-19821639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4416836	chr8:19821647-19821648	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146744580	chr8:19821667-19821668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528437390	chr8:19821714-19821715	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184858321	chr8:19821737-19821738	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571715188	chr8:19821759-19821760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567285052	chr8:19821764-19821765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539111618	chr8:19821779-19821780	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77069344	chr8:19821782-19821783	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80307903	chr8:19821801-19821802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536872820	chr8:19821808-19821809	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10099160	chr8:19821815-19821816	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189780846	chr8:19821861-19821862	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181375026	chr8:19821893-19821894	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552531742	chr8:19821908-19821909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577254028	chr8:19821926-19821927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544669873	chr8:19821927-19821928	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563065343	chr8:19821937-19821938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527917590	chr8:19821946-19821947	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536221821	chr8:19821958-19821959	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374372468	chr8:19822027-19822028	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75946927	chr8:19822041-19822042	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528386025	chr8:19822051-19822052	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546942218	chr8:19822071-19822072	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561323673	chr8:19822102-19822103	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565262303	chr8:19822114-19822115	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	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
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	22341455	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19798600-19824200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:19800800-19823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:19805000-19824800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:19805800-19824600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:19811800-19822400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:19811800-19826000	Weak transcription	Brain Germinal Matrix	brain
7	chr8:19813600-19823000	Weak transcription	Fetal Brain Male	brain
8	chr8:19814200-19821600	Weak transcription	Fetal Brain Female	brain
9	chr8:19814800-19822800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:19817000-19824800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:19818400-19822800	Strong transcription	Fetal Lung	lung
12	chr8:19819600-19822200	Strong transcription	Right Ventricle	heart
13	chr8:19820000-19822000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:19820000-19822200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:19820000-19822600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:19820000-19823600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:19820200-19822000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:19820200-19824000	Strong transcription	Left Ventricle	heart
19	chr8:19820400-19821600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:19820400-19821800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:19820400-19822000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:19820400-19822600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:19820400-19825400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:19820600-19822800	Weak transcription	Fetal Heart	heart
25	chr8:19820600-19824800	Strong transcription	Adipose Nuclei	Adipose
26	chr8:19820600-19824800	Weak transcription	Ovary	ovary
27	chr8:19820600-19825000	Weak transcription	Lung	lung
28	chr8:19820600-19833400	Weak transcription	Psoas Muscle	Psoas
29	chr8:19820800-19822200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:19821000-19823600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:19821000-19826200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr8:19821600-19821800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:19821800-19824000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:19822000-19823200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:19822000-19823200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr8:19822000-19823800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr8:19822200-19823400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr8:19822200-19823400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr8:19822200-19824800	Weak transcription	Right Ventricle	heart
40	chr8:19822400-19823000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:19822600-19823200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr8:19822600-19823200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:19822800-19823000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:19822800-19823400	Genic enhancers	Fetal Lung	lung
45	chr8:19822800-19824800	Enhancers	Fetal Heart	heart
46	chr8:19823000-19823200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:19823000-19823200	Active TSS	Fetal Brain Male	brain
48	chr8:19823400-19825600	Enhancers	Fetal Lung	lung
49	chr8:19823400-19828200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:19824000-19825600	Weak transcription	Left Ventricle	heart

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