Variant report

Variant	nsv890639
Chromosome Location	chr8:19983859-20005154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19674771..19677183-chr8:19988400..19991254,2	K562	blood:
2	chr8:19229314..19230191-chr8:19990957..19991686,3	K562	blood:
3	chr8:19670534..19671042-chr8:19990928..19991891,2	MCF-7	breast:
4	chr8:19980514..19983511-chr8:19986584..19989159,2	K562	blood:
5	chr8:19614946..19615490-chr8:19990822..19991486,2	MCF-7	breast:
6	chr8:19991226..19991903-chr8:20233790..20234437,2	MCF-7	breast:
7	chr8:19727572..19728249-chr8:19990904..19991781,3	K562	blood:

Variant related genes	Relation type
ENSG00000147408	chromatin interactions
ENSG00000104613	chromatin interactions

Extended variants
information (count: 1109 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:1109 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7001825	chr8:19983859-19983860	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139303027	chr8:19983924-19983925	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183290076	chr8:19983930-19983931	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74841656	chr8:19983960-19983961	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188373983	chr8:19984003-19984004	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371610558	chr8:19984033-19984034	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145575284	chr8:19984053-19984054	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114477711	chr8:19984054-19984055	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372747458	chr8:19984061-19984062	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545246303	chr8:19984080-19984081	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549979090	chr8:19984091-19984092	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568221301	chr8:19984189-19984190	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563474623	chr8:19984205-19984206	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs192267463	chr8:19984208-19984209	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs574890669	chr8:19984212-19984213	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs184657838	chr8:19984239-19984240	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs547627132	chr8:19984272-19984273	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs566031216	chr8:19984344-19984345	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs539770607	chr8:19984345-19984346	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs187876044	chr8:19984350-19984351	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs79821695	chr8:19984377-19984378	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs74722706	chr8:19984400-19984401	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs374980267	chr8:19984443-19984444	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs533389418	chr8:19984449-19984450	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs118048834	chr8:19984464-19984465	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs57329083	chr8:19984483-19984484	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs17092045	chr8:19984523-19984524	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552070759	chr8:19984545-19984546	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs142724583	chr8:19984555-19984556	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs115862597	chr8:19984560-19984561	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs11204092	chr8:19984562-19984563	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543423932	chr8:19984568-19984569	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs370982530	chr8:19984569-19984570	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs375847784	chr8:19984592-19984593	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs561839768	chr8:19984596-19984597	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs192581076	chr8:19984612-19984613	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs201814933	chr8:19984616-19984617	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs184159075	chr8:19984628-19984629	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs559729248	chr8:19984640-19984641	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs189487070	chr8:19984650-19984651	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs116612198	chr8:19984655-19984656	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs537227702	chr8:19984656-19984657	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs570331157	chr8:19984673-19984674	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs80182024	chr8:19984694-19984695	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs555974691	chr8:19984719-19984720	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs537402357	chr8:19984745-19984746	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs78736967	chr8:19984790-19984791	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs568054647	chr8:19984804-19984805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367952914	chr8:19984827-19984828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78546497	chr8:19984842-19984843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19978000-19993600	Weak transcription	Right Ventricle	heart
2	chr8:19978200-19987000	Weak transcription	Left Ventricle	heart
3	chr8:19980200-19986000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:19980800-19986000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:19981200-19985800	Weak transcription	HMEC	breast
6	chr8:19982000-19984600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr8:19982800-19984800	Bivalent Enhancer	Placenta	Placenta
8	chr8:19983000-19984200	Enhancers	Fetal Muscle Leg	muscle
9	chr8:19983200-19984200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:19983200-19984600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:19983400-19984000	Enhancers	Brain Germinal Matrix	brain
12	chr8:19984200-19985800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:19984400-19984600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:19984600-19984800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:19985800-19987200	Enhancers	HMEC	breast
16	chr8:19985800-19987600	Enhancers	Placenta	Placenta
17	chr8:19985800-19988000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:19986000-19986400	Enhancers	Esophagus	oesophagus
19	chr8:19986000-19987200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:19986000-19987200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:19986000-19987400	Enhancers	NHEK	skin
22	chr8:19986000-19987600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:19986000-19988000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr8:19986400-19986800	Weak transcription	Esophagus	oesophagus
25	chr8:19986600-19987200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:19986600-19987400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:19986800-19987000	Enhancers	Esophagus	oesophagus
28	chr8:19987000-19987800	Enhancers	Left Ventricle	heart
29	chr8:19987000-19992400	Weak transcription	Esophagus	oesophagus
30	chr8:19987200-19992600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:19987200-19992600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:19987200-19995000	Weak transcription	HMEC	breast
33	chr8:19987400-19992200	Weak transcription	NHEK	skin
34	chr8:19987600-19988000	Bivalent Enhancer	Placenta	Placenta
35	chr8:19987600-19992400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:19988000-19992800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:19990000-19990200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:19992200-19993600	Enhancers	NHEK	skin
39	chr8:19992400-19993000	Enhancers	Esophagus	oesophagus
40	chr8:19992400-19993600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:19992600-19993200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:19992600-19993200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:19992800-19993000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr8:19992800-19993000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:19992800-19993000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:19992800-19993200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:19992800-19993200	Enhancers	Fetal Intestine Large	intestine
48	chr8:19993000-19993200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:19993000-19993400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:19993000-19993800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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