Variant report

Variant	nsv981934
Chromosome Location	chr8:47470026-47502214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:47168205..47168775-chr8:47479656..47480472,2	MCF-7	breast:
2	chr8:47487702..47490248-chr8:47515594..47517867,2	K562	blood:
3	chr8:47491632..47493538-chr8:47505350..47507971,2	K562	blood:
4	chr8:47484279..47485112-chr8:47579488..47580411,3	MCF-7	breast:
5	chr8:47144016..47144925-chr8:47484500..47485152,3	MCF-7	breast:

Extended variants
information (count: 253 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531698527	chr8:47477606-47477607	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs148820445	chr8:47477631-47477632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs571634440	chr8:47477644-47477645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs113289517	chr8:47477656-47477657	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs547700383	chr8:47477675-47477676	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs375570826	chr8:47477684-47477685	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs567448151	chr8:47477689-47477690	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs28781924	chr8:47477726-47477727	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556403742	chr8:47477740-47477741	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs182749686	chr8:47477816-47477817	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs189023861	chr8:47477874-47477875	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192344131	chr8:47477875-47477876	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs142473637	chr8:47477879-47477880	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569646840	chr8:47477884-47477885	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs540646646	chr8:47477921-47477922	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs184729908	chr8:47477934-47477935	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs528934665	chr8:47477975-47477976	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs13278289	chr8:47477979-47477980	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs560887799	chr8:47477981-47477982	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs191493108	chr8:47484415-47484416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183194886	chr8:47484416-47484417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369318528	chr8:47484421-47484422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138038693	chr8:47484505-47484506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142221392	chr8:47484535-47484536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201400380	chr8:47484590-47484591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562222404	chr8:47486416-47486417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531177234	chr8:47486427-47486428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75101430	chr8:47486431-47486432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564655107	chr8:47486447-47486448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533272569	chr8:47486459-47486460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377246701	chr8:47486509-47486510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546657904	chr8:47486529-47486530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74578579	chr8:47486553-47486554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529678009	chr8:47486566-47486567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566563783	chr8:47486578-47486579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185523765	chr8:47486587-47486588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548915530	chr8:47486621-47486622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569046273	chr8:47486645-47486646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143843592	chr8:47486662-47486663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560458747	chr8:47486689-47486690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532363627	chr8:47486701-47486702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552360217	chr8:47486728-47486729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374437131	chr8:47486759-47486760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367762611	chr8:47486764-47486765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557668130	chr8:47486835-47486836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571389099	chr8:47486854-47486855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10112598	chr8:47486893-47486894	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs114594331	chr8:47486926-47486927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146388904	chr8:47486934-47486935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542641057	chr8:47486936-47486937	Enhancers 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
Oral cancer	21386901	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
Acute myeloid leukemia	21251322	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
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	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	21293372	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47477600-47477800	Active TSS	Monocytes-CD14+_RO01746	blood
2	chr8:47477800-47478000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr8:47484400-47484600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr8:47486400-47486800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr8:47486400-47488800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr8:47486800-47487800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:47487800-47488600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:47488000-47488800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr8:47488600-47490200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:47488800-47489800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:47489800-47491200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr8:47490200-47490800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:47498200-47498600	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links