Variant report

Variant	nsv980718
Chromosome Location	chr5:115552636-115554415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr5:115553101-115553358	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:115553932-115554011	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115523919..115526832-chr5:115553749..115555427,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEMA6A-7	chr5:115553723-115553992	NONHSAT103356

Variant related genes	Relation type
HMGN2P27	TF binding region
ENSG00000212457	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563326245	chr5:115552648-115552649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2161321	chr5:115552670-115552671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs72804891	chr5:115552692-115552693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187279303	chr5:115552699-115552700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528432356	chr5:115552744-115552745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546153709	chr5:115552752-115552753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568762804	chr5:115552792-115552793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35201618	chr5:115552807-115552808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs199820861	chr5:115552848-115552849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557572529	chr5:115552850-115552851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571054979	chr5:115552851-115552852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12521682	chr5:115552855-115552856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2112569	chr5:115552864-115552865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs556516234	chr5:115552869-115552870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540996491	chr5:115552878-115552879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77408881	chr5:115552890-115552891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574713175	chr5:115552903-115552904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs712561	chr5:115552945-115552946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs145713498	chr5:115552954-115552955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75588875	chr5:115552972-115552973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7711861	chr5:115552981-115552982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs542596084	chr5:115553020-115553021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115655152	chr5:115553024-115553025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140954968	chr5:115553030-115553031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548597002	chr5:115553040-115553041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544296754	chr5:115553052-115553053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191774414	chr5:115553077-115553078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150267861	chr5:115553083-115553084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550946910	chr5:115553133-115553134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562483953	chr5:115553135-115553136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184691620	chr5:115553156-115553157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138977555	chr5:115553192-115553193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144846158	chr5:115553239-115553240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143316979	chr5:115553252-115553253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188917655	chr5:115553259-115553260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534406393	chr5:115553282-115553283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61746302	chr5:115553295-115553296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551726667	chr5:115553306-115553307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73259040	chr5:115553310-115553311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574302280	chr5:115553316-115553317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193257700	chr5:115553323-115553324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560183702	chr5:115553360-115553361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147498426	chr5:115553361-115553362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576646841	chr5:115553394-115553395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6872204	chr5:115553428-115553429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545231427	chr5:115553438-115553439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559105645	chr5:115553453-115553454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573327913	chr5:115553454-115553455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541954817	chr5:115553455-115553456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562117269	chr5:115553456-115553457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115525800-115560000	Weak transcription	Left Ventricle	heart
2	chr5:115537200-115559400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:115537400-115560000	Weak transcription	Primary T cells from cord blood	blood
4	chr5:115537600-115560200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:115542600-115562800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:115549800-115560000	Weak transcription	Fetal Intestine Small	intestine
7	chr5:115550400-115556400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:115551800-115576400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:115553400-115560200	Weak transcription	Fetal Stomach	stomach

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