Variant report

Variant	esv19146
Chromosome Location	chr13:87410775-87418497
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	chr11:3376919..3379551-chr13:87416799..87418315,2	K562	blood:

Extended variants
information (count: 372 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544609432	chr13:87410781-87410782	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577076911	chr13:87410782-87410783	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562696781	chr13:87410881-87410882	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376148650	chr13:87410889-87410890	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530211567	chr13:87410892-87410893	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553200024	chr13:87410902-87410903	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547227606	chr13:87410903-87410904	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560555174	chr13:87410905-87410906	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559491810	chr13:87410914-87410915	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372295997	chr13:87410935-87410936	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532910931	chr13:87410944-87410945	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375734741	chr13:87411058-87411059	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142829899	chr13:87411103-87411104	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571582669	chr13:87411112-87411113	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532267101	chr13:87411116-87411117	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556135522	chr13:87411128-87411129	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185760615	chr13:87411147-87411148	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568808254	chr13:87411152-87411153	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145059963	chr13:87411166-87411167	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548012853	chr13:87411194-87411195	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148339109	chr13:87411214-87411215	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs141520119	chr13:87411228-87411229	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs370061293	chr13:87411229-87411230	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs573185531	chr13:87411298-87411299	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs150888992	chr13:87411336-87411337	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs538106858	chr13:87411375-87411376	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs7139600	chr13:87411466-87411467	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs191193626	chr13:87411510-87411511	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs138315522	chr13:87411547-87411548	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs560592483	chr13:87411574-87411575	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs144118936	chr13:87411575-87411576	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs183810714	chr13:87411596-87411597	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs147342997	chr13:87411607-87411608	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs550474730	chr13:87411669-87411670	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs532333073	chr13:87411717-87411718	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs568615348	chr13:87411722-87411723	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs562787232	chr13:87411781-87411782	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs529683182	chr13:87411787-87411788	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs547754572	chr13:87411803-87411804	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs566244983	chr13:87411806-87411807	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs112827872	chr13:87411846-87411847	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552353532	chr13:87411919-87411920	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs571001149	chr13:87411942-87411943	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs371547472	chr13:87411955-87411956	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs139580129	chr13:87411973-87411974	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs538423110	chr13:87412020-87412021	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs556608755	chr13:87412072-87412073	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs143949182	chr13:87412108-87412109	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs535499868	chr13:87412116-87412117	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs554170879	chr13:87412134-87412135	Active TSS	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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87409200-87411200	Enhancers	HMEC	breast
2	chr13:87409800-87411400	Active TSS	Primary T cells fromperipheralblood	blood
3	chr13:87409800-87411400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
4	chr13:87409800-87416800	Active TSS	Fetal Thymus	thymus
5	chr13:87416800-87417000	Flanking Active TSS	Fetal Thymus	thymus
6	chr13:87417000-87417200	Active TSS	Fetal Thymus	thymus
7	chr13:87417200-87417800	Flanking Active TSS	Fetal Thymus	thymus
8	chr13:87417800-87418400	Active TSS	Fetal Thymus	thymus
9	chr13:87418000-87418200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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