Variant report

Variant	esv1009895
Chromosome Location	chr13:95577021-95582563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95573626..95575980-chr13:95578227..95580681,2	K562	blood:

Extended variants
information (count: 231 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:231 , 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	rs147001542	chr13:95577030-95577031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138035639	chr13:95577132-95577133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184765327	chr13:95577187-95577188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373986711	chr13:95577212-95577213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546223876	chr13:95577213-95577214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189271400	chr13:95577227-95577228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113805865	chr13:95577232-95577233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377342156	chr13:95577242-95577243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs753811	chr13:95577261-95577262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149499022	chr13:95577373-95577374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35671564	chr13:95577395-95577396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527358244	chr13:95577407-95577408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547462766	chr13:95577411-95577412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564175474	chr13:95577432-95577433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533130359	chr13:95577438-95577439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181011485	chr13:95577441-95577442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569581886	chr13:95577453-95577454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35424279	chr13:95577470-95577471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537870943	chr13:95577490-95577491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77998424	chr13:95577494-95577495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527997951	chr13:95577495-95577496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144026041	chr13:95577504-95577505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534073986	chr13:95577512-95577513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184303827	chr13:95577515-95577516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148755463	chr13:95577536-95577537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540020292	chr13:95577552-95577553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2182261	chr13:95577555-95577556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576778618	chr13:95577581-95577582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117305251	chr13:95577604-95577605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547483220	chr13:95577606-95577607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533215090	chr13:95577635-95577636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570245745	chr13:95577690-95577691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs942913	chr13:95577726-95577727	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs189283857	chr13:95577788-95577789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74105057	chr13:95577900-95577901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76934519	chr13:95577931-95577932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs16950351	chr13:95577962-95577963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543187093	chr13:95577972-95577973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535746071	chr13:95577980-95577981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181280732	chr13:95578044-95578045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554821242	chr13:95578051-95578052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548855948	chr13:95578080-95578081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146312487	chr13:95578090-95578091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527663527	chr13:95578101-95578102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186398589	chr13:95578120-95578121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570888996	chr13:95578124-95578125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540057073	chr13:95578166-95578167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556744855	chr13:95578213-95578214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570256134	chr13:95578239-95578240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114208457	chr13:95578276-95578277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95574200-95583600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr13:95576000-95577800	Enhancers	GM12878-XiMat	blood
3	chr13:95580600-95581000	Enhancers	Fetal Lung	lung

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