Variant report

Variant	nsv521992
Chromosome Location	chr8:19155901-19159082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19152770..19154882-chr8:19158766..19160464,2	K562	blood:
2	chr8:19155044..19157820-chr8:19172820..19174971,2	MCF-7	breast:
3	chr8:19156532..19159524-chr8:19170148..19172446,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104611	chromatin interactions

Extended variants
information (count: 193 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:193 , 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	rs1193328	chr8:19155901-19155902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373596354	chr8:19155922-19155923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188601557	chr8:19155923-19155924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73210489	chr8:19155937-19155938	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538412031	chr8:19155948-19155949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565122047	chr8:19155951-19155952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191913364	chr8:19155962-19155963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578246137	chr8:19155990-19155991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139271553	chr8:19155996-19155997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10106826	chr8:19156035-19156036	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544713816	chr8:19156038-19156039	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs554133671	chr8:19156042-19156043	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368676871	chr8:19156053-19156054	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs73210490	chr8:19156054-19156055	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535223846	chr8:19156057-19156058	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556350212	chr8:19156076-19156077	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs1915416	chr8:19156100-19156101	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184342365	chr8:19156103-19156104	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs145348974	chr8:19156104-19156105	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs147694481	chr8:19156146-19156147	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs565910070	chr8:19156147-19156148	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560947007	chr8:19156148-19156149	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs529621904	chr8:19156158-19156159	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs140775166	chr8:19156177-19156178	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs10110529	chr8:19156182-19156183	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs531976817	chr8:19156193-19156194	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs10099975	chr8:19156206-19156207	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs572018270	chr8:19156209-19156210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28688582	chr8:19156212-19156213	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs55899350	chr8:19156213-19156214	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs190174733	chr8:19156234-19156235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536225571	chr8:19156237-19156238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145252486	chr8:19156252-19156253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144987218	chr8:19156274-19156275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544847460	chr8:19156275-19156276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558330440	chr8:19156283-19156284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571865376	chr8:19156284-19156285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111712003	chr8:19156287-19156288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10109833	chr8:19156367-19156368	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs75301559	chr8:19156396-19156397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375065524	chr8:19156403-19156404	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs550278259	chr8:19156410-19156411	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs529719113	chr8:19156411-19156412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs555461585	chr8:19156413-19156414	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs182359188	chr8:19156435-19156436	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs563414022	chr8:19156478-19156479	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs149080460	chr8:19156511-19156512	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs377007938	chr8:19156539-19156540	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs185692838	chr8:19156580-19156581	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143205005	chr8:19156586-19156587	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	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

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19151400-19170200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:19151600-19156000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:19151600-19156000	Weak transcription	Esophagus	oesophagus
4	chr8:19152600-19156000	Weak transcription	HSMMtube	muscle
5	chr8:19154400-19159400	Enhancers	NHDF-Ad	bronchial
6	chr8:19154600-19157400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:19154800-19157400	Enhancers	NHLF	lung
8	chr8:19155000-19156600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr8:19155000-19157600	Enhancers	Osteobl	bone
10	chr8:19155200-19157400	Enhancers	HSMM	muscle
11	chr8:19155400-19156000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:19155400-19157800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:19155600-19157000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:19155800-19156400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:19155800-19157000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:19155800-19157000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:19155800-19157200	Enhancers	NH-A	brain
18	chr8:19155800-19158400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:19156000-19156200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:19156000-19156400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:19156000-19156400	Enhancers	Esophagus	oesophagus
22	chr8:19156000-19156800	Enhancers	HSMMtube	muscle
23	chr8:19156200-19156400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:19156400-19156600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:19156400-19156800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:19156400-19161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:19156600-19157000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:19156800-19157400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:19156800-19169800	Weak transcription	HSMMtube	muscle
30	chr8:19157000-19158200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:19157000-19162200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:19157400-19158200	Weak transcription	HSMM	muscle
33	chr8:19157400-19158600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:19157400-19168600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:19157400-19169600	Weak transcription	NHLF	lung
36	chr8:19157600-19169600	Weak transcription	Osteobl	bone
37	chr8:19157800-19158200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:19158200-19158800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:19158200-19158800	Enhancers	HSMM	muscle
40	chr8:19158200-19159000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:19158400-19163600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:19158600-19159200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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