Variant report

Variant	esv2629638
Chromosome Location	chr8:19979604-19981126
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19786443..19786979-chr8:19980934..19981886,2	MCF-7	breast:
2	chr8:19980514..19983511-chr8:19986584..19989159,2	K562	blood:
3	chr8:19786061..19786740-chr8:19980944..19981679,3	K562	blood:
4	chr8:19727405..19728444-chr8:19980912..19981476,3	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370563611	chr8:19979618-19979619	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs28702547	chr8:19979627-19979628	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs137856046	chr8:19979672-19979673	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs529333406	chr8:19979734-19979735	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs547450265	chr8:19979743-19979744	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs377138366	chr8:19979801-19979802	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs143545547	chr8:19979807-19979808	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs372196295	chr8:19979814-19979815	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs375297707	chr8:19979822-19979823	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs368666507	chr8:19979823-19979824	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs533303194	chr8:19979843-19979844	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs112928559	chr8:19979846-19979847	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs570317386	chr8:19979847-19979848	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs368473375	chr8:19979864-19979865	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs372215824	chr8:19979930-19979931	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs537388386	chr8:19979938-19979939	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs376775347	chr8:19979942-19979943	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs73602337	chr8:19980039-19980040	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs367796361	chr8:19980048-19980049	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370953825	chr8:19980127-19980128	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568315933	chr8:19980138-19980139	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535466650	chr8:19980150-19980151	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs553858480	chr8:19980175-19980176	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs542287126	chr8:19980214-19980215	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs572183791	chr8:19980266-19980267	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs75343778	chr8:19980269-19980270	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs77124492	chr8:19980270-19980271	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs71205961	chr8:19980272-19980273	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs77998257	chr8:19980273-19980274	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs375038748	chr8:19980278-19980279	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs369442359	chr8:19980279-19980280	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs535862825	chr8:19980318-19980319	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs546011672	chr8:19980352-19980353	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs554134564	chr8:19980356-19980357	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs576265487	chr8:19980500-19980501	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs113827654	chr8:19980558-19980559	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs543388544	chr8:19980567-19980568	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs562030036	chr8:19980574-19980575	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs529221552	chr8:19980576-19980577	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs541030243	chr8:19980577-19980578	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs559380519	chr8:19980581-19980582	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs375581788	chr8:19980632-19980633	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs533288664	chr8:19980687-19980688	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs572731347	chr8:19980703-19980704	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs551945050	chr8:19980731-19980732	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs368890265	chr8:19980751-19980752	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs570181205	chr8:19980755-19980756	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs567616717	chr8:19980769-19980770	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs182646349	chr8:19980808-19980809	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs188094829	chr8:19980838-19980839	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19975800-19980000	Weak transcription	NHEK	skin
2	chr8:19977600-19980000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:19978000-19981000	Weak transcription	Fetal Lung	lung
4	chr8:19978000-19981000	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:19978000-19993600	Weak transcription	Right Ventricle	heart
6	chr8:19978200-19980800	Weak transcription	Adipose Nuclei	Adipose
7	chr8:19978200-19981000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:19978200-19981000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:19978200-19987000	Weak transcription	Left Ventricle	heart
10	chr8:19978400-19980000	Weak transcription	Hela-S3	cervix
11	chr8:19978400-19980400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:19978400-19980600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:19978400-19981000	Weak transcription	A549	lung
14	chr8:19978400-19981200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:19978400-19983000	Weak transcription	Right Atrium	heart
16	chr8:19978600-19982000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:19979200-19980200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
18	chr8:19979400-19980200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr8:19979400-19980200	Bivalent Enhancer	NHDF-Ad	bronchial
20	chr8:19979400-19981200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:19979400-19981200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:19979400-19981200	Enhancers	HMEC	breast
23	chr8:19979600-19979800	Flanking Active TSS	NH-A	brain
24	chr8:19979600-19980200	Enhancers	HUVEC	blood vessel
25	chr8:19979600-19981000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:19979600-19981000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:19979600-19981200	Enhancers	Osteobl	bone
28	chr8:19979600-19981400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:19979600-19981400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:19979800-19980000	Enhancers	NH-A	brain
31	chr8:19980000-19980200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:19980000-19980200	Flanking Active TSS	NH-A	brain
33	chr8:19980000-19980200	Enhancers	NHEK	skin
34	chr8:19980000-19980800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:19980000-19980800	Enhancers	Hela-S3	cervix
36	chr8:19980000-19981000	Enhancers	HSMM	muscle
37	chr8:19980000-19981400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr8:19980200-19981000	Weak transcription	HUVEC	blood vessel
39	chr8:19980200-19981200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr8:19980200-19981200	Enhancers	NH-A	brain
41	chr8:19980200-19986000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr8:19980400-19981000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:19980600-19980800	Enhancers	Lung	lung
44	chr8:19980600-19980800	Enhancers	K562	blood
45	chr8:19980600-19981000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:19980600-19981000	Enhancers	Placenta	Placenta
47	chr8:19980800-19982200	Enhancers	Adipose Nuclei	Adipose
48	chr8:19980800-19986000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:19981000-19981200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:19981000-19981200	Enhancers	Fetal Lung	lung

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