Variant report

Variant	esv1806335
Chromosome Location	chr13:39748022-39750239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:39748230-39748478	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
NXT1P1	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572821268	chr13:39748029-39748030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552027939	chr13:39748038-39748039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192277782	chr13:39748043-39748044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374241673	chr13:39748077-39748078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182162727	chr13:39748079-39748080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140102014	chr13:39748178-39748179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575225567	chr13:39748205-39748206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534451983	chr13:39748229-39748230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143893422	chr13:39748297-39748298	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs577212254	chr13:39748323-39748324	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs546167249	chr13:39748336-39748337	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs150642093	chr13:39748341-39748342	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs576750925	chr13:39748348-39748349	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs544020552	chr13:39748356-39748357	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs560710141	chr13:39748392-39748393	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs529942317	chr13:39748411-39748412	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs540184079	chr13:39748425-39748426	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs9576748	chr13:39748432-39748433	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs532046314	chr13:39748490-39748491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552129150	chr13:39748491-39748492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568880134	chr13:39748599-39748600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544047576	chr13:39748623-39748624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531398772	chr13:39748651-39748652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139827944	chr13:39748659-39748660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149769543	chr13:39748660-39748661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371030800	chr13:39748727-39748728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534386589	chr13:39748750-39748751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570344727	chr13:39748795-39748796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368703245	chr13:39748796-39748797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145727092	chr13:39748845-39748846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539474230	chr13:39748847-39748848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566876091	chr13:39748913-39748914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4296143	chr13:39748945-39748946	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114317977	chr13:39748963-39748964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555438231	chr13:39748964-39748965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139387947	chr13:39748986-39748987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540407271	chr13:39749001-39749002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569299906	chr13:39749006-39749007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560217302	chr13:39749052-39749053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532406508	chr13:39749055-39749056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545496286	chr13:39749116-39749117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114759794	chr13:39749121-39749122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9548654	chr13:39749185-39749186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531435589	chr13:39749223-39749224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189939796	chr13:39749257-39749258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3927575	chr13:39749282-39749283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs367577135	chr13:39749305-39749306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527920560	chr13:39749352-39749353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143010172	chr13:39749361-39749362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547945259	chr13:39749373-39749374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39739000-39764000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:39747600-39748600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:39748800-39750200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:39749400-39749800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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