Variant report

Variant	nsv971647
Chromosome Location	chr8:48003589-48021573
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:48013635..48015583-chr8:48017920..48019595,2	MCF-7	breast:
2	chr8:48011750..48014188-chr8:48015386..48017652,2	MCF-7	breast:
3	chr17:41464809..41468263-chr8:48018253..48019773,7	K562	blood:
4	chr8:48013635..48015583-chr8:48017920..48019595,2	MCF-7	breast:
5	chr17:41382019..41383699-chr8:48018253..48019773,2	K562	blood:
6	chr8:48015941..48018518-chr8:48020123..48022156,2	K562	blood:
7	chr8:48011750..48014188-chr8:48015386..48017652,2	MCF-7	breast:
8	chr8:48015941..48018518-chr8:48020123..48022156,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions
ENSG00000188825	chromatin interactions

Extended variants
information (count: 531 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569478454	chr8:48003614-48003615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13273902	chr8:48003688-48003689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548881185	chr8:48003706-48003707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567085964	chr8:48003737-48003738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534485096	chr8:48003774-48003775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188043571	chr8:48003817-48003818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192462528	chr8:48003826-48003827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369525346	chr8:48003854-48003855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542985789	chr8:48003857-48003858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556591369	chr8:48003858-48003859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575116542	chr8:48003861-48003862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183540969	chr8:48003929-48003930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554732129	chr8:48003933-48003934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188540916	chr8:48003935-48003936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192734226	chr8:48003977-48003978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540688209	chr8:48003979-48003980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528725093	chr8:48004057-48004058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540514372	chr8:48004058-48004059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565147364	chr8:48004061-48004062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577265379	chr8:48004072-48004073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544740775	chr8:48004106-48004107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562937091	chr8:48004118-48004119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530201944	chr8:48004139-48004140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548526956	chr8:48004143-48004144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184713990	chr8:48004167-48004168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528015336	chr8:48004171-48004172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545189319	chr8:48004172-48004173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201715819	chr8:48004174-48004175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552794196	chr8:48004188-48004189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114444503	chr8:48004192-48004193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538216477	chr8:48004214-48004215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550274554	chr8:48004236-48004237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375555721	chr8:48004253-48004254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117014580	chr8:48004267-48004268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554510697	chr8:48004300-48004301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532817963	chr8:48004412-48004413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76780450	chr8:48004416-48004417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560569268	chr8:48004450-48004451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533850198	chr8:48004454-48004455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558790246	chr8:48004475-48004476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549387401	chr8:48004563-48004564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532709249	chr8:48004646-48004647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188167117	chr8:48004700-48004701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191463977	chr8:48004726-48004727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142128006	chr8:48004729-48004730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575034393	chr8:48004743-48004744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571270462	chr8:48004807-48004808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183594541	chr8:48004811-48004812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560529745	chr8:48004846-48004847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552533528	chr8:48004864-48004865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	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
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47999200-48012200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:48012000-48012800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr8:48012200-48012400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:48012200-48012600	Active TSS	K562	blood
5	chr8:48012200-48013000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:48013000-48013200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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