Variant report

Variant	nsv508510
Chromosome Location	chr8:57967028-57994116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:57958323..57960463-chr8:57966619..57968564,2	MCF-7	breast:
2	chr8:57983788..57988460-chr8:57989645..57992930,4	K562	blood:
3	chr8:57969033..57971183-chr8:57975062..57976912,2	K562	blood:
4	chr8:57983788..57988460-chr8:57989645..57992930,4	K562	blood:
5	chr8:57969033..57971183-chr8:57975062..57976912,2	K562	blood:
6	chr8:57966902..57969878-chr8:57971450..57973564,2	MCF-7	breast:
7	chr8:57965882..57968408-chr8:57971486..57974461,2	K562	blood:
8	chr8:57975894..57977879-chr8:57979464..57981694,2	K562	blood:
9	chr8:57962948..57965572-chr8:57969601..57972127,2	K562	blood:
10	chr8:57966902..57969878-chr8:57971450..57973564,2	MCF-7	breast:
11	chr8:57965882..57968408-chr8:57971486..57974461,2	K562	blood:
12	chr8:57975894..57977879-chr8:57979464..57981694,2	K562	blood:

No data

Extended variants
information (count: 979 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188378524	chr8:57967036-57967037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79918626	chr8:57967044-57967045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577119443	chr8:57967105-57967106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576398014	chr8:57967180-57967181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56063421	chr8:57967185-57967186	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs556443509	chr8:57967203-57967204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113535696	chr8:57967231-57967232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531622402	chr8:57967232-57967233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115003711	chr8:57967249-57967250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561214669	chr8:57967364-57967365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527516004	chr8:57967391-57967392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116964289	chr8:57967434-57967435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566995137	chr8:57967457-57967458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538611084	chr8:57967465-57967466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75087720	chr8:57967489-57967490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140620827	chr8:57967499-57967500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375142063	chr8:57967544-57967545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180989692	chr8:57967623-57967624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144738701	chr8:57967630-57967631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574678784	chr8:57967680-57967681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138677856	chr8:57967683-57967684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141804627	chr8:57967700-57967701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185220076	chr8:57967751-57967752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545618593	chr8:57967797-57967798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189628210	chr8:57967827-57967828	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143603196	chr8:57967838-57967839	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182345480	chr8:57967839-57967840	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561978142	chr8:57967848-57967849	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527452741	chr8:57967849-57967850	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547617434	chr8:57967919-57967920	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561122598	chr8:57967979-57967980	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376243752	chr8:57967982-57967983	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560530859	chr8:57967996-57967997	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530175200	chr8:57968026-57968027	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs552437119	chr8:57968028-57968029	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs538434462	chr8:57968041-57968042	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs186793481	chr8:57968043-57968044	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368129227	chr8:57968047-57968048	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs537889713	chr8:57968094-57968095	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs369950358	chr8:57968106-57968107	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs548441927	chr8:57968111-57968112	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs568438384	chr8:57968116-57968117	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs534084809	chr8:57968125-57968126	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs560168465	chr8:57968127-57968128	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs191639244	chr8:57968143-57968144	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs571001160	chr8:57968149-57968150	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs539494552	chr8:57968150-57968151	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs556019176	chr8:57968157-57968158	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs575958550	chr8:57968166-57968167	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs532591592	chr8:57968167-57968168	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57964800-57967800	Enhancers	Liver	Liver
2	chr8:57965200-57967400	Weak transcription	Stomach Mucosa	stomach
3	chr8:57965600-57967200	Weak transcription	HepG2	liver
4	chr8:57965600-57967200	Weak transcription	NHEK	skin
5	chr8:57966600-57967600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:57966600-57968600	Enhancers	Fetal Lung	lung
7	chr8:57966800-57968000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:57967000-57967600	Enhancers	Fetal Brain Female	brain
9	chr8:57967200-57967600	Enhancers	NHEK	skin
10	chr8:57967200-57967800	Enhancers	Fetal Kidney	kidney
11	chr8:57967200-57968000	Enhancers	Adipose Nuclei	Adipose
12	chr8:57967200-57968000	Enhancers	Fetal Brain Male	brain
13	chr8:57967200-57968000	Enhancers	HepG2	liver
14	chr8:57967200-57968200	Enhancers	Fetal Muscle Leg	muscle
15	chr8:57967200-57968200	Enhancers	HUVEC	blood vessel
16	chr8:57967200-57968600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:57967400-57967800	Enhancers	Stomach Mucosa	stomach
18	chr8:57967600-57967800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:57967600-57968200	Enhancers	Placenta	Placenta
20	chr8:57967800-57968000	Enhancers	Lung	lung
21	chr8:57967800-57968200	Flanking Active TSS	Liver	Liver
22	chr8:57967800-57968200	Enhancers	Fetal Muscle Trunk	muscle
23	chr8:57967800-57970600	Weak transcription	Stomach Mucosa	stomach
24	chr8:57968000-57968200	Enhancers	Pancreas	Pancrea
25	chr8:57968000-57970800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:57968000-57971200	Weak transcription	Adipose Nuclei	Adipose
27	chr8:57968000-57972600	Weak transcription	Fetal Brain Male	brain
28	chr8:57968000-57973800	Weak transcription	Lung	lung
29	chr8:57968200-57968800	Enhancers	Liver	Liver
30	chr8:57968200-57972200	Weak transcription	Placenta	Placenta
31	chr8:57968200-57975400	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:57968400-57981200	Weak transcription	Pancreas	Pancrea
33	chr8:57968600-57970800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:57968800-57973000	Weak transcription	Liver	Liver
35	chr8:57970600-57971200	Enhancers	Stomach Mucosa	stomach
36	chr8:57970600-57971200	Enhancers	NH-A	brain
37	chr8:57970800-57971800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:57970800-57978000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:57971200-57975600	Weak transcription	Stomach Mucosa	stomach
40	chr8:57971200-57978400	Enhancers	Adipose Nuclei	Adipose
41	chr8:57971800-57975200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:57972200-57972800	Enhancers	Placenta	Placenta
43	chr8:57972600-57973400	Enhancers	Fetal Brain Male	brain
44	chr8:57972600-57978200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:57972800-57975400	Weak transcription	Placenta	Placenta
46	chr8:57973000-57974000	Enhancers	Liver	Liver
47	chr8:57973400-57975600	Weak transcription	Fetal Brain Male	brain
48	chr8:57973800-57974200	Enhancers	Lung	lung
49	chr8:57974000-57975000	Weak transcription	Liver	Liver
50	chr8:57974200-57976200	Weak transcription	Lung	lung

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