Variant report

Variant	esv1809236
Chromosome Location	chr13:39746260-39752044
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	CTCF	chr13:39746961-39746970	GM10248	blood:	n/a	n/a
2	POLR2A	chr13:39751621-39751670	GM12878	blood:	n/a	n/a
3	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: 226 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:226 , 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	rs2324165	chr13:39746260-39746261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112268185	chr13:39746269-39746270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2324166	chr13:39746334-39746335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556509485	chr13:39746373-39746374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573415143	chr13:39746374-39746375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553876356	chr13:39746407-39746408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570439277	chr13:39746423-39746424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553151702	chr13:39746439-39746440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7333862	chr13:39746470-39746471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545259707	chr13:39746481-39746482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565602369	chr13:39746535-39746536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531085669	chr13:39746569-39746570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544611429	chr13:39746570-39746571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140448330	chr13:39746571-39746572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530220964	chr13:39746576-39746577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547162917	chr13:39746601-39746602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369681501	chr13:39746634-39746635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528322795	chr13:39746663-39746664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375352388	chr13:39746665-39746666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57461704	chr13:39746666-39746667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112884256	chr13:39746668-39746669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551263896	chr13:39746672-39746673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571537831	chr13:39746681-39746682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78095442	chr13:39746710-39746711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181033647	chr13:39746731-39746732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185552915	chr13:39746740-39746741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372927707	chr13:39746772-39746773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115674838	chr13:39746782-39746783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146493966	chr13:39746824-39746825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545607776	chr13:39746826-39746827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558851249	chr13:39746828-39746829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189849263	chr13:39746856-39746857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9532338	chr13:39746890-39746891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs9532339	chr13:39746904-39746905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535967591	chr13:39746980-39746981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574926751	chr13:39747034-39747035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140872835	chr13:39747036-39747037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181770931	chr13:39747079-39747080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150117908	chr13:39747100-39747101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138358469	chr13:39747117-39747118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149245222	chr13:39747119-39747120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112670228	chr13:39747169-39747170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530835246	chr13:39747259-39747260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200047955	chr13:39747266-39747267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550505794	chr13:39747267-39747268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200569014	chr13:39747268-39747269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374092182	chr13:39747276-39747277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111229897	chr13:39747277-39747278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535874850	chr13:39747362-39747363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546162480	chr13:39747367-39747368	Weak transcription	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:5 , 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
5	chr13:39750800-39751000	Enhancers	Left Ventricle	heart

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