Variant report

Variant	nsv824561
Chromosome Location	chr8:19786264-19787773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19786191..19787478-chr8:19970989..19972023,3	K562	blood:
2	chr8:19786061..19786740-chr8:19980944..19981679,3	K562	blood:
3	chr8:19786079..19786796-chr8:20233434..20233934,2	K562	blood:
4	chr8:19786443..19786979-chr8:19980934..19981886,2	MCF-7	breast:
5	chr8:19786007..19786963-chr8:19971036..19972051,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242709	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559151253	chr8:19786266-19786267	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs10102021	chr8:19786289-19786290	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs142666307	chr8:19786303-19786304	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184496764	chr8:19786321-19786322	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533658720	chr8:19786389-19786390	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558293397	chr8:19786431-19786432	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527359635	chr8:19786455-19786456	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146907051	chr8:19786496-19786497	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138919811	chr8:19786525-19786526	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs78477521	chr8:19786552-19786553	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574708937	chr8:19786578-19786579	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs149356697	chr8:19786603-19786604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144661010	chr8:19786658-19786659	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529819192	chr8:19786720-19786721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114360639	chr8:19786721-19786722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148122361	chr8:19786748-19786749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531802866	chr8:19786756-19786757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550384333	chr8:19786769-19786770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192465531	chr8:19786800-19786801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572419040	chr8:19786801-19786802	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs71943692	chr8:19786822-19786823	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs35481263	chr8:19786832-19786833	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs3138837	chr8:19786836-19786837	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs142835035	chr8:19786840-19786841	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529613814	chr8:19786841-19786842	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547750818	chr8:19786890-19786891	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs7816032	chr8:19786891-19786892	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
28	rs200365792	chr8:19786902-19786903	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188170249	chr8:19786909-19786910	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112685166	chr8:19786942-19786943	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551855791	chr8:19786953-19786954	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139296125	chr8:19787030-19787031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10102032	chr8:19787032-19787033	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs386723270	chr8:19787059-19787060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10102045	chr8:19787060-19787061	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535755020	chr8:19787068-19787069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186637874	chr8:19787103-19787104	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572474170	chr8:19787116-19787117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546260178	chr8:19787120-19787121	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564556031	chr8:19787125-19787126	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576509811	chr8:19787160-19787161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144074413	chr8:19787170-19787171	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535623424	chr8:19787171-19787172	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543627003	chr8:19787179-19787180	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562325590	chr8:19787180-19787181	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs6984990	chr8:19787192-19787193	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs547689977	chr8:19787197-19787198	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs191752679	chr8:19787213-19787214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200853722	chr8:19787216-19787217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs181673491	chr8:19787236-19787237	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19782800-19786800	Weak transcription	Fetal Heart	heart
2	chr8:19785000-19786600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr8:19785200-19786600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:19785400-19786400	Enhancers	Adipose Nuclei	Adipose
5	chr8:19786000-19786800	Enhancers	Hela-S3	cervix
6	chr8:19786000-19787000	Enhancers	GM12878-XiMat	blood
7	chr8:19786200-19786400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:19786200-19786400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:19786200-19786400	Enhancers	Fetal Muscle Trunk	muscle
10	chr8:19786200-19786600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:19786200-19787000	Enhancers	Right Ventricle	heart
12	chr8:19786200-19787000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:19786200-19787000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr8:19786800-19787000	Enhancers	Fetal Heart	heart
15	chr8:19787400-19788400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr8:19787600-19788000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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