Variant report

Variant	nsv976151
Chromosome Location	chr13:111412910-111416176
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:111413508-111413599	MCF-7	breast:	n/a	n/a
2	POLR2A	chr13:111413610-111413722	MCF-7	breast:	n/a	n/a
3	SPI1	chr13:111415607-111415748	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111366101..111367907-chr13:111415468..111417217,2	K562	blood:
2	chr13:111368423..111371345-chr13:111411343..111413791,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CARS2-1	chr13:111415021-111415480	NONHSAT035172

No data

Variant related genes	Relation type
RPL21P107	TF binding region
ENSG00000153487	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75534726	chr13:111412912-111412913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566764787	chr13:111412933-111412934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539386309	chr13:111412960-111412961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534234403	chr13:111412982-111412983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550025717	chr13:111413004-111413005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569797035	chr13:111413007-111413008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142145186	chr13:111413030-111413031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182531597	chr13:111413054-111413055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150799010	chr13:111413068-111413069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139185135	chr13:111413082-111413083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73625142	chr13:111413139-111413140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149775954	chr13:111413152-111413153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535784660	chr13:111413154-111413155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370975168	chr13:111413155-111413156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572380880	chr13:111413160-111413161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571706374	chr13:111413164-111413165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564503647	chr13:111413180-111413181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187187569	chr13:111413212-111413213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193005929	chr13:111413232-111413233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562549244	chr13:111413298-111413299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369246526	chr13:111413300-111413301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77068268	chr13:111413306-111413307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200275801	chr13:111413307-111413308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548080407	chr13:111413359-111413360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560472934	chr13:111413415-111413416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527569109	chr13:111413430-111413431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188803584	chr13:111413435-111413436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570834797	chr13:111413449-111413450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531717701	chr13:111413506-111413507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550209644	chr13:111413511-111413512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568457164	chr13:111413549-111413550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193061867	chr13:111413624-111413625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9515278	chr13:111413634-111413635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs328790	chr13:111413647-111413648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146781956	chr13:111413665-111413666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558132197	chr13:111413666-111413667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369166460	chr13:111413747-111413748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9559870	chr13:111413794-111413795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs543853628	chr13:111413804-111413805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540579383	chr13:111413807-111413808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563750644	chr13:111413831-111413832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556271963	chr13:111413846-111413847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115558222	chr13:111413847-111413848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542041792	chr13:111413860-111413861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560355886	chr13:111413899-111413900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527608075	chr13:111413913-111413914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114587536	chr13:111413915-111413916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564482907	chr13:111413963-111413964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184757276	chr13:111413971-111413972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549883012	chr13:111413972-111413973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111410000-111423000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:111412600-111415000	Weak transcription	Spleen	Spleen
3	chr13:111415000-111415200	Enhancers	Spleen	Spleen

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