Variant report

Variant	nsv890645
Chromosome Location	chr8:20708335-20762512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:20737626..20740045-chr8:20787296..20789914,2	K562	blood:
2	chr8:20724387..20726387-chr8:20728763..20730962,2	K562	blood:
3	chr8:20750920..20753775-chr8:20759115..20761137,3	K562	blood:
4	chr8:20724387..20726387-chr8:20728763..20730962,2	K562	blood:
5	chr8:20750920..20753775-chr8:20759115..20761137,3	K562	blood:

Extended variants
information (count: 734 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs964189	chr8:20708335-20708336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559794042	chr8:20708343-20708344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575507989	chr8:20708521-20708522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191940580	chr8:20708542-20708543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78844844	chr8:20708549-20708550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145583339	chr8:20708607-20708608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368782945	chr8:20708625-20708626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2583688	chr8:20708626-20708627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs80062748	chr8:20708642-20708643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563844097	chr8:20708656-20708657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150204422	chr8:20708698-20708699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549603685	chr8:20708745-20708746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183738244	chr8:20708752-20708753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189174426	chr8:20708903-20708904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79625564	chr8:20708926-20708927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565424029	chr8:20708927-20708928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539189868	chr8:20708989-20708990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549299580	chr8:20721605-20721606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530100979	chr8:20721637-20721638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188800034	chr8:20721638-20721639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370133676	chr8:20721639-20721640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34556713	chr8:20721643-20721644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567426529	chr8:20721653-20721654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534825787	chr8:20721654-20721655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374456782	chr8:20721673-20721674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114505070	chr8:20721685-20721686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571741808	chr8:20721688-20721689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13277522	chr8:20721706-20721707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs149963264	chr8:20721715-20721716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7462668	chr8:20721748-20721749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184706824	chr8:20721797-20721798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559168429	chr8:20721803-20721804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144976095	chr8:20721807-20721808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571383328	chr8:20721864-20721865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573074570	chr8:20721902-20721903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540849719	chr8:20721928-20721929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559171824	chr8:20721936-20721937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577710612	chr8:20721937-20721938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544678279	chr8:20721939-20721940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201564510	chr8:20721953-20721954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563250350	chr8:20721972-20721973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530528623	chr8:20721980-20721981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540069261	chr8:20723010-20723011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532224251	chr8:20723012-20723013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551026193	chr8:20723035-20723036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78695346	chr8:20723061-20723062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564772003	chr8:20723062-20723063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532154215	chr8:20723090-20723091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566823559	chr8:20723190-20723191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534460890	chr8:20723191-20723192	Enhancers	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20708200-20709000	Enhancers	Fetal Stomach	stomach
2	chr8:20721600-20722000	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr8:20721600-20722000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:20721800-20722000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr8:20723000-20724800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:20723200-20725000	Enhancers	NH-A	brain
7	chr8:20723200-20725800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:20723400-20724600	Enhancers	HSMM	muscle
9	chr8:20723400-20724800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:20723400-20724800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:20723600-20724200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:20723600-20724800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:20723800-20724600	Enhancers	HSMMtube	muscle
14	chr8:20723800-20725400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:20724000-20724200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:20724000-20724600	Enhancers	Brain Anterior Caudate	brain
17	chr8:20724000-20725200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr8:20724000-20725200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr8:20724000-20725400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:20724200-20724600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:20724200-20724600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr8:20724200-20724800	Enhancers	Spleen	Spleen
23	chr8:20724200-20725400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:20724200-20725400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr8:20724200-20725600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:20724400-20724800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:20724400-20725000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr8:20724400-20725200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr8:20724400-20725400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:20724600-20725400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:20736600-20737000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr8:20736600-20737600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:20737400-20737600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:20737600-20739000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:20738400-20739400	Enhancers	Brain Germinal Matrix	brain
36	chr8:20738600-20739800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:20738600-20740000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:20738600-20740000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr8:20738600-20740000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr8:20738800-20739600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr8:20738800-20739600	Enhancers	Fetal Intestine Large	intestine
42	chr8:20738800-20739800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:20738800-20739800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:20739000-20739600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr8:20739000-20739800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:20739200-20739400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr8:20739200-20739600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:20739200-20739800	Enhancers	Adipose Nuclei	Adipose
49	chr8:20739400-20739800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr8:20739400-20739800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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