Variant report

Variant	esv32798
Chromosome Location	chr13:51060816-51066036
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	chr13:51065369-51065395	MCF-7	breast:	n/a	n/a
2	CTCF	chr13:51061180-51061330	HPF	lung:	n/a	n/a
3	E2F4	chr13:51065769-51065810	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr13:51060449-51060932	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr13:51060390-51060894	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr13:51060698-51061000	K562	blood:	n/a	chr13:51060983-51060996
7	GATA2	chr13:51060631-51061048	SH-SY5Y	brain:	n/a	chr13:51060835-51060847 chr13:51060836-51060845 chr13:51060833-51060849 chr13:51060836-51060846 chr13:51060838-51060845 chr13:51060907-51060916
8	GATA3	chr13:51060408-51060844	SH-SY5Y	brain:	n/a	n/a
9	JUND	chr13:51060761-51060953	K562	blood:	n/a	n/a
10	JUND	chr13:51063711-51063809	HepG2	liver:	n/a	n/a
11	KAP1	chr13:51060252-51061047	HEK293	kidney:	n/a	n/a
12	MAFF	chr13:51061049-51061357	HepG2	liver:	n/a	chr13:51061190-51061208
13	MAFK	chr13:51061040-51061373	HepG2	liver:	n/a	n/a
14	MAFK	chr13:51064019-51064227	HepG2	liver:	n/a	chr13:51064120-51064135
15	MAFK	chr13:51061073-51061352	HepG2	liver:	n/a	n/a
16	MAFK	chr13:51064012-51064278	HepG2	liver:	n/a	chr13:51064120-51064135
17	MAFK	chr13:51061044-51061318	IMR90	lung:	n/a	n/a
18	MAZ	chr13:51060811-51061118	K562	blood:	n/a	n/a
19	MYC	chr13:51060735-51060991	K562	blood:	n/a	n/a
20	MYC	chr13:51060876-51061076	K562	blood:	n/a	n/a
21	MYC	chr13:51060786-51060990	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr13:51065337-51065533	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr13:51065805-51065838	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr13:51065349-51065519	Gliobla	brain:	n/a	n/a
25	RCOR1	chr13:51060659-51061013	K562	blood:	n/a	n/a
26	STAT3	chr13:51062998-51063198	MCF10A-Er-Src	breast:	n/a	n/a
27	TAL1	chr13:51060712-51060912	K562	blood:	n/a	n/a
28	TBP	chr13:51065741-51065777	HepG2	liver:	n/a	n/a
29	TEAD4	chr13:51060623-51061033	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:51059299..51061286-chr13:51063138..51065247,2	MCF-7	breast:
2	chr12:132987438..132988105-chr13:51062911..51063480,2	MCF-7	breast:
3	chr13:51059299..51061286-chr13:51063138..51065247,2	MCF-7	breast:
4	chr13:51057495..51060887-chr13:51065845..51068156,3	K562	blood:

Variant related genes	Relation type
DLEU1	TF binding region
ENSG00000176124	chromatin interactions

Extended variants
information (count: 132 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144293143	chr13:51060826-51060827	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374311020	chr13:51060831-51060832	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191551999	chr13:51060853-51060854	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182191507	chr13:51060877-51060878	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555799312	chr13:51060887-51060888	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs74076635	chr13:51060897-51060898	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs538293774	chr13:51060914-51060915	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553704754	chr13:51060949-51060950	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9316498	chr13:51060955-51060956	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs115749006	chr13:51060970-51060971	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78695667	chr13:51060994-51060995	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74789881	chr13:51061018-51061019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149340	chr13:51061044-51061045	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs370755322	chr13:51061052-51061053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186296351	chr13:51061142-51061143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113236292	chr13:51061206-51061207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191081893	chr13:51061218-51061219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201444895	chr13:51061248-51061249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527612258	chr13:51061253-51061254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61964387	chr13:51061300-51061301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549213053	chr13:51061350-51061351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544358689	chr13:51061360-51061361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115624754	chr13:51061364-51061365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531442267	chr13:51061394-51061395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74076636	chr13:51061432-51061433	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs374163093	chr13:51061486-51061487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182147283	chr13:51061516-51061517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538328924	chr13:51061529-51061530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547090341	chr13:51061564-51061565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117935294	chr13:51061581-51061582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115192861	chr13:51061647-51061648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141373168	chr13:51061810-51061811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574385717	chr13:51061847-51061848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556478204	chr13:51061872-51061873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185400920	chr13:51061878-51061879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538471298	chr13:51061901-51061902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556781251	chr13:51061908-51061909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578156055	chr13:51061918-51061919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201764	chr13:51061932-51061933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560289114	chr13:51061955-51061956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs169321	chr13:51061976-51061977	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs61964388	chr13:51061980-51061981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191144520	chr13:51062016-51062017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531480290	chr13:51062031-51062032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549597659	chr13:51062051-51062052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564702753	chr13:51062082-51062083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561985965	chr13:51062095-51062096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182924902	chr13:51062106-51062107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188449626	chr13:51062115-51062116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371782641	chr13:51062209-51062210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Trisomy	24170809	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
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
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
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51058400-51061400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr13:51058400-51061400	Enhancers	Fetal Heart	heart
3	chr13:51059000-51061200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:51059200-51061000	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr13:51059200-51061200	Enhancers	Brain Anterior Caudate	brain
6	chr13:51059200-51061400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:51059800-51061000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:51060000-51061200	Enhancers	NHLF	lung
9	chr13:51060200-51061000	Enhancers	Brain Substantia Nigra	brain
10	chr13:51060200-51061000	Enhancers	Fetal Muscle Leg	muscle
11	chr13:51060200-51061200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:51060200-51061200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:51060200-51061200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:51060400-51061000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr13:51060400-51061000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:51060400-51061000	Enhancers	Ovary	ovary
17	chr13:51060400-51061000	Enhancers	Psoas Muscle	Psoas
18	chr13:51060400-51061000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr13:51060400-51061000	Flanking Active TSS	NHDF-Ad	bronchial
20	chr13:51060400-51061000	Flanking Active TSS	Osteobl	bone
21	chr13:51060400-51061200	Enhancers	K562	blood
22	chr13:51060600-51061000	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr13:51060600-51061000	Enhancers	Right Atrium	heart
24	chr13:51060600-51061600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:51060800-51061000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:51060800-51061000	Enhancers	Fetal Lung	lung
27	chr13:51060800-51061000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr13:51060800-51061200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:51060800-51063000	Weak transcription	Fetal Kidney	kidney
30	chr13:51060800-51064000	Weak transcription	Aorta	Aorta
31	chr13:51061000-51061200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:51061000-51061200	Enhancers	Fetal Stomach	stomach
33	chr13:51061000-51061200	Enhancers	Osteobl	bone
34	chr13:51064000-51064200	Enhancers	Aorta	Aorta
35	chr13:51065600-51068600	Weak transcription	HepG2	liver

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