Variant report

Variant	esv3367106
Chromosome Location	chr13:111257601-111260299
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	chr13:111260059..111265177-chr13:111265738..111269909,6	K562	blood:

Variant related genes	Relation type
ENSG00000213995	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77710017	chr13:111257604-111257605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555000655	chr13:111257657-111257658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541563544	chr13:111257674-111257675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559983253	chr13:111257677-111257678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117277847	chr13:111257704-111257705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552015522	chr13:111257734-111257735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570209904	chr13:111257788-111257789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377766483	chr13:111257802-111257803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147711749	chr13:111257805-111257806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563715588	chr13:111257828-111257829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191991021	chr13:111257871-111257872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116596390	chr13:111257890-111257891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577499643	chr13:111257892-111257893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202112418	chr13:111257898-111257899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200526283	chr13:111257899-111257900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527817552	chr13:111257904-111257905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553499097	chr13:111257914-111257915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565529309	chr13:111257916-111257917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539200035	chr13:111257917-111257918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557552935	chr13:111257918-111257919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576222428	chr13:111257919-111257920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549521287	chr13:111257922-111257923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397735777	chr13:111257926-111257927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202221011	chr13:111257927-111257928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200900751	chr13:111257985-111257986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201695902	chr13:111257987-111257988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140791874	chr13:111257997-111257998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111852637	chr13:111258003-111258004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562119775	chr13:111258019-111258020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184239407	chr13:111258036-111258037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373291022	chr13:111258049-111258050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113659096	chr13:111258050-111258051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574023628	chr13:111258052-111258053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9301473	chr13:111258101-111258102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189139802	chr13:111258150-111258151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370687735	chr13:111258159-111258160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182589003	chr13:111258173-111258174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541526455	chr13:111258212-111258213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12868508	chr13:111258258-111258259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559841878	chr13:111258259-111258260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374091231	chr13:111258295-111258296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578149324	chr13:111258345-111258346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545593111	chr13:111258403-111258404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185048976	chr13:111258404-111258405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9521876	chr13:111258420-111258421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531098059	chr13:111258426-111258427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200544244	chr13:111258462-111258463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370283238	chr13:111258516-111258517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549679247	chr13:111258539-111258540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538121098	chr13:111258594-111258595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	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
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111249800-111262400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:111254000-111260400	Weak transcription	HepG2	liver
3	chr13:111254000-111262600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:111255200-111259400	Weak transcription	Placenta	Placenta
5	chr13:111255200-111259800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr13:111255800-111262600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:111256000-111259600	Weak transcription	Ovary	ovary
8	chr13:111259400-111260000	Enhancers	Placenta	Placenta
9	chr13:111259600-111260200	Enhancers	Ovary	ovary
10	chr13:111259600-111262600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr13:111259800-111261000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr13:111260000-111262600	Weak transcription	Placenta	Placenta
13	chr13:111260200-111260600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:111260200-111260600	Weak transcription	Ovary	ovary
15	chr13:111260200-111260600	Enhancers	GM12878-XiMat	blood
16	chr13:111260200-111260800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links