Variant report

Variant	nsv976236
Chromosome Location	chr13:53414604-53419037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:53225538..53227071-chr13:53417980..53420315,2	MCF-7	breast:
2	chr13:53413901..53415786-chr13:53423425..53426036,2	MCF-7	breast:
3	chr13:53416128..53422445-chr13:53423052..53427915,11	MCF-7	breast:
4	chr13:53237822..53239845-chr13:53418461..53420570,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PCDH8	hsa-miR-200a-3p	chr13:53418431-53418452
2	PCDH8	hsa-miR-200a-3p	chr13:53418620-53418644

Variant related genes	Relation type
ENSG00000165416	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557824709	chr13:53414606-53414607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571418720	chr13:53414616-53414617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs55983010	chr13:53414622-53414623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76604152	chr13:53414678-53414679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573020743	chr13:53414691-53414692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182108426	chr13:53414712-53414713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371415927	chr13:53414715-53414716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555402866	chr13:53414744-53414745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575167193	chr13:53414833-53414834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs151228750	chr13:53414850-53414851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564121657	chr13:53414864-53414865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577833225	chr13:53414872-53414873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555684139	chr13:53414890-53414891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540793670	chr13:53414924-53414925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187065640	chr13:53414963-53414964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529488568	chr13:53414974-53414975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529809565	chr13:53414978-53414979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9596691	chr13:53415063-53415064	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs529664821	chr13:53415154-53415155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548469155	chr13:53415155-53415156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557326316	chr13:53415165-53415166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376506020	chr13:53415169-53415170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367636194	chr13:53415200-53415201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563082418	chr13:53415207-53415208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531561866	chr13:53415209-53415210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112412875	chr13:53415274-53415275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571382120	chr13:53415311-53415312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9596692	chr13:53415345-53415346	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191818059	chr13:53415392-53415393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74088311	chr13:53415452-53415453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566637680	chr13:53415469-53415470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139775625	chr13:53415473-53415474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566126392	chr13:53415492-53415493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74088313	chr13:53415494-53415495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs621443	chr13:53415496-53415497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs570982635	chr13:53415498-53415499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141299419	chr13:53415600-53415601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183891248	chr13:53415633-53415634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145033077	chr13:53415706-53415707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577745916	chr13:53415707-53415708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74088314	chr13:53415732-53415733	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs77132456	chr13:53415784-53415785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574169948	chr13:53415790-53415791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531629687	chr13:53415794-53415795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188552648	chr13:53415847-53415848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138796297	chr13:53415915-53415916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536155826	chr13:53415920-53415921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193034923	chr13:53415971-53415972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551328226	chr13:53416036-53416037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551748977	chr13:53416147-53416148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
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
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
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53409200-53418800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:53410000-53415800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:53413200-53414800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:53413200-53418800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:53413200-53419200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:53413400-53416400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:53414800-53416600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:53415800-53416000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:53416000-53416400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:53416000-53418800	Weak transcription	Pancreas	Pancrea
11	chr13:53416400-53416800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:53416400-53417200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:53416400-53417200	Bivalent Enhancer	Brain Germinal Matrix	brain
14	chr13:53416400-53417800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr13:53416600-53416800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:53416600-53416800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:53416600-53416800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:53416600-53416800	Bivalent Enhancer	Fetal Brain Male	brain
19	chr13:53416600-53417200	Enhancers	HepG2	liver
20	chr13:53416800-53417000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:53416800-53418600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:53417000-53417200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:53417000-53417200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:53417000-53417600	Enhancers	Fetal Brain Female	brain
25	chr13:53417200-53417600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:53417200-53418600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:53417600-53418400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:53417800-53418600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr13:53418400-53422400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:53418600-53419200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:53418600-53419200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
32	chr13:53418600-53419400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr13:53418600-53419400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
34	chr13:53418600-53419400	Bivalent Enhancer	Fetal Brain Male	brain
35	chr13:53418600-53419800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr13:53418600-53419800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr13:53418600-53419800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
38	chr13:53418600-53420800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
39	chr13:53418600-53420800	Bivalent Enhancer	Spleen	Spleen
40	chr13:53418600-53421800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:53418800-53419000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr13:53418800-53419600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr13:53418800-53420600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
44	chr13:53418800-53422800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr13:53418800-53422800	Enhancers	Pancreas	Pancrea
46	chr13:53419000-53419200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr13:53419000-53419200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr13:53419000-53419400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr13:53419000-53419400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:53419000-53419400	Bivalent Enhancer	Right Ventricle	heart

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