Variant report

Variant	nsv968908
Chromosome Location	chr5:42890982-42893125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:42891381-42891388	K562	blood:	n/a	n/a
2	CEBPB	chr5:42891266-42891283	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42881977..42885731-chr5:42887904..42891094,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC152-3	chr5:42892680-42892860	NONHSAT101231
2	lnc-CCDC152-3	chr5:42891409-42891604	NONHSAT101231

No data

Variant related genes	Relation type
ENSG00000249092	TF binding region
SEPP1	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542528519	chr5:42890993-42890994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546733250	chr5:42891015-42891016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143137596	chr5:42891094-42891095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183595291	chr5:42891106-42891107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373550205	chr5:42891140-42891141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547803389	chr5:42891145-42891146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569036469	chr5:42891146-42891147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138897174	chr5:42891205-42891206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554461356	chr5:42891234-42891235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534901879	chr5:42891287-42891288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370118093	chr5:42891289-42891290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35193582	chr5:42891313-42891314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186864578	chr5:42891332-42891333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533825380	chr5:42891435-42891436	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs73751272	chr5:42891482-42891483	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs368464721	chr5:42891616-42891617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535607130	chr5:42891617-42891618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546072224	chr5:42891619-42891620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200594595	chr5:42891637-42891638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs59650950	chr5:42891638-42891639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386687663	chr5:42891639-42891640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576874934	chr5:42891643-42891644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs386687664	chr5:42891659-42891660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142919232	chr5:42891663-42891664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373170880	chr5:42891667-42891668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377187541	chr5:42891671-42891672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72119609	chr5:42891672-42891673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13164096	chr5:42891677-42891678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192664226	chr5:42891709-42891710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201771632	chr5:42891797-42891798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575832596	chr5:42891806-42891807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185005655	chr5:42891860-42891861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561318213	chr5:42891869-42891870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559883659	chr5:42891885-42891886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528564609	chr5:42891905-42891906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540287864	chr5:42891958-42891959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552337541	chr5:42892015-42892016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71627561	chr5:42892031-42892032	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532401075	chr5:42892075-42892076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550685765	chr5:42892087-42892088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569176242	chr5:42892135-42892136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538146351	chr5:42892158-42892159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554153275	chr5:42892164-42892165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529945249	chr5:42892238-42892239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189982583	chr5:42892239-42892240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566629191	chr5:42892265-42892266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533891287	chr5:42892266-42892267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147452753	chr5:42892289-42892290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs309928	chr5:42892300-42892301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs537880507	chr5:42892309-42892310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42887600-42894400	Weak transcription	K562	blood
2	chr5:42889600-42894200	Weak transcription	Adipose Nuclei	Adipose
3	chr5:42890000-42891000	Weak transcription	Liver	Liver
4	chr5:42891000-42892200	Enhancers	Liver	Liver

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