Variant report

Variant	nsv1044887
Chromosome Location	chr13:65257467-65315083
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:65286215..65288763-chr13:65291876..65293439,2	K562	blood:
2	chr13:65274620..65276481-chr13:65278666..65280880,2	MCF-7	breast:
3	chr13:65293521..65294041-chr8:107636082..107636585,2	MCF-7	breast:
4	chr13:65274620..65276481-chr13:65278666..65280880,2	MCF-7	breast:
5	chr13:65286215..65288763-chr13:65291876..65293439,2	K562	blood:

Extended variants
information (count: 1322 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1322 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190753220	chr13:65257474-65257475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542462964	chr13:65257478-65257479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554385143	chr13:65257553-65257554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550582365	chr13:65257556-65257557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572481327	chr13:65257638-65257639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550394376	chr13:65257651-65257652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140029649	chr13:65257664-65257665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377584761	chr13:65257696-65257697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs359346	chr13:65257728-65257729	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531735304	chr13:65257744-65257745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12873049	chr13:65257818-65257819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112891938	chr13:65257876-65257877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142249156	chr13:65257889-65257890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547220495	chr13:65257949-65257950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565853897	chr13:65257971-65257972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186092998	chr13:65257978-65257979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151022478	chr13:65258002-65258003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149338087	chr13:65258036-65258037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532927174	chr13:65258045-65258046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71442639	chr13:65258069-65258070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374465932	chr13:65258120-65258121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551458142	chr13:65258187-65258188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189724659	chr13:65258220-65258221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73512826	chr13:65258225-65258226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555371582	chr13:65258267-65258268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149728828	chr13:65258290-65258291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199652859	chr13:65258383-65258384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74769424	chr13:65258396-65258397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536139751	chr13:65258397-65258398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554446459	chr13:65258440-65258441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572595925	chr13:65258441-65258442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546035497	chr13:65258444-65258445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558243263	chr13:65258460-65258461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576425286	chr13:65258532-65258533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543434143	chr13:65258584-65258585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368608306	chr13:65258586-65258587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561727126	chr13:65258617-65258618	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9571250	chr13:65258629-65258630	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs374110481	chr13:65258642-65258643	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77650938	chr13:65258669-65258670	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559333796	chr13:65258670-65258671	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533158191	chr13:65258678-65258679	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371477856	chr13:65258683-65258684	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538340403	chr13:65258705-65258706	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551251333	chr13:65258706-65258707	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569751239	chr13:65258727-65258728	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373667142	chr13:65258762-65258763	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182109981	chr13:65258773-65258774	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549033638	chr13:65258774-65258775	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185523889	chr13:65258777-65258778	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65250000-65263000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:65250400-65262800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr13:65250400-65263200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:65256800-65259400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:65257000-65260800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:65257400-65258600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr13:65257400-65258600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:65257400-65258600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr13:65257400-65261200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr13:65257600-65260200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:65257600-65263200	Weak transcription	NHDF-Ad	bronchial
12	chr13:65258000-65258600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:65258000-65258600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:65258200-65259000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:65258400-65260000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr13:65258600-65258800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr13:65258600-65258800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr13:65258600-65259000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr13:65258600-65259400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr13:65258600-65259600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:65258600-65260200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr13:65258800-65259000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr13:65258800-65259200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr13:65258800-65259600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr13:65258800-65260000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr13:65259000-65259200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr13:65259000-65260800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:65259200-65259600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr13:65259200-65259600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:65259200-65260400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr13:65259400-65259800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:65259400-65260200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr13:65259600-65260200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr13:65259800-65260000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr13:65260000-65261000	Enhancers	HMEC	breast
36	chr13:65260000-65263000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:65260400-65260800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr13:65260400-65260800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:65260800-65261200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr13:65260800-65263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:65261000-65263000	Weak transcription	HMEC	breast
42	chr13:65262600-65263800	Enhancers	Hela-S3	cervix
43	chr13:65262800-65263800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr13:65263000-65263800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr13:65263000-65263800	Enhancers	HMEC	breast
46	chr13:65263000-65264000	Enhancers	NHEK	skin
47	chr13:65263200-65263800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:65263200-65263800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:65263200-65263800	Enhancers	NH-A	brain
50	chr13:65263200-65263800	Enhancers	NHDF-Ad	bronchial

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