Variant report

Variant	nsv969240
Chromosome Location	chr5:104091178-104101862
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:3)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:104091669..104093962-chr5:104097846..104099466,2	MCF-7	breast:
2	chr5:104091669..104093962-chr5:104097846..104099466,2	MCF-7	breast:
3	chr5:104086946..104088891-chr5:104090048..104092847,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
2	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
3	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
4	lnc-C5orf30-2	chr5:104098977-104099084	XLOC_004497
5	lnc-NUDT12-5	chr5:104098932-104099084	ENSG00000251574
6	lnc-NUDT12-5	chr5:104098981-104099084	NONHSAT103082
7	lnc-NUDT12-5	chr5:104098981-104099084	NONHSAT103081
8	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574

No data

Variant related genes	Relation type
CREB3L2	miRNA target sites

Extended variants
information (count: 239 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376987247	chr5:104091191-104091192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533490966	chr5:104091212-104091213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550317774	chr5:104091222-104091223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140765038	chr5:104091223-104091224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34211343	chr5:104091237-104091238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35909731	chr5:104091240-104091241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370330505	chr5:104091254-104091255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34563303	chr5:104091259-104091260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572657977	chr5:104091314-104091315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548416509	chr5:104091315-104091316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544378309	chr5:104091324-104091325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568309569	chr5:104091336-104091337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562508624	chr5:104091393-104091394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533773075	chr5:104091394-104091395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144729580	chr5:104091399-104091400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182091427	chr5:104091409-104091410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374503802	chr5:104091424-104091425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186679886	chr5:104091425-104091426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576191160	chr5:104091467-104091468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542062995	chr5:104091469-104091470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs161776	chr5:104091478-104091479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572693299	chr5:104091494-104091495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541402999	chr5:104091630-104091631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564442792	chr5:104091645-104091646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533377326	chr5:104091647-104091648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10057262	chr5:104091652-104091653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs373986831	chr5:104091659-104091660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111981803	chr5:104091660-104091661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563772666	chr5:104091680-104091681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376446608	chr5:104091682-104091683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576432824	chr5:104091683-104091684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556408832	chr5:104091686-104091687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189911828	chr5:104091723-104091724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55864875	chr5:104091724-104091725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75904032	chr5:104091727-104091728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531529291	chr5:104091767-104091768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548124560	chr5:104091773-104091774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147916126	chr5:104091792-104091793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78565323	chr5:104091799-104091800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141522849	chr5:104091805-104091806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560123369	chr5:104091842-104091843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547310699	chr5:104091864-104091865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374334612	chr5:104091894-104091895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115747385	chr5:104091903-104091904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539056530	chr5:104091929-104091930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555795111	chr5:104091935-104091936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569699449	chr5:104091950-104091951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536041044	chr5:104091958-104091959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369906564	chr5:104091975-104091976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374091419	chr5:104091976-104091977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104089800-104091200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:104089800-104091200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:104089800-104091200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:104089800-104091200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:104089800-104091400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:104091200-104092600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:104091400-104095000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:104095000-104095800	Enhancers	HUES64 Cell Line	embryonic stem cell

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