Variant report

Variant	esv1010553
Chromosome Location	chr13:51063137-51075373
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr13:51068926-51068942	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr13:51065369-51065395	MCF-7	breast:	n/a	n/a
3	CTCF	chr13:51066171-51066200	Lung_OC	lung:	n/a	n/a
4	E2F4	chr13:51065769-51065810	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr13:51066794-51066832	MCF10A-Er-Src	breast:	n/a	n/a
6	JUND	chr13:51068432-51068493	K562	blood:	n/a	n/a
7	JUND	chr13:51063711-51063809	HepG2	liver:	n/a	n/a
8	MAFK	chr13:51064012-51064278	HepG2	liver:	n/a	chr13:51064120-51064135
9	MAFK	chr13:51064019-51064227	HepG2	liver:	n/a	chr13:51064120-51064135
10	MAZ	chr13:51066308-51066416	HepG2	liver:	n/a	n/a
11	POLR2A	chr13:51065337-51065533	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr13:51065349-51065519	Gliobla	brain:	n/a	n/a
13	POLR2A	chr13:51065805-51065838	MCF10A-Er-Src	breast:	n/a	n/a
14	SPI1	chr13:51068156-51068803	HL-60	blood:	n/a	n/a
15	SPI1	chr13:51068268-51068591	HL-60	blood:	n/a	n/a
16	STAT3	chr13:51062998-51063198	MCF10A-Er-Src	breast:	n/a	n/a
17	TBP	chr13:51065741-51065777	HepG2	liver:	n/a	n/a
18	ZC3H11A	chr13:51068226-51068342	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:132987438..132988105-chr13:51062911..51063480,2	MCF-7	breast:
2	chr13:51065916..51068221-chr13:51075145..51077143,2	K562	blood:
3	chr13:51059299..51061286-chr13:51063138..51065247,2	MCF-7	breast:

(count:20 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNASEH2B-3	chr13:51066787-51066897	XLOC_010390
2	lnc-RNASEH2B-3	chr13:51067608-51067670	NONHSAT033856
3	lnc-RNASEH2B-3	chr13:51066787-51066897	NONHSAT140131
4	lnc-RNASEH2B-3	chr13:51066787-51066897	NONHSAT033827
5	lnc-RNASEH2B-3	chr13:51066787-51066897	NONHSAT033856
6	lnc-RNASEH2B-3	chr13:51066787-51067189	NONHSAT033842
7	lnc-RNASEH2B-3	chr13:51066787-51066897	XLOC_010390
8	lnc-RNASEH2B-3	chr13:51066787-51066897	NONHSAT033821
9	lnc-RNASEH2B-3	chr13:51066787-51066897	NONHSAT033825
10	lnc-RNASEH2B-3	chr13:51069312-51069605	NONHSAT033856
11	lnc-RNASEH2B-3	chr13:51066787-51066897	NONHSAT033846
12	lnc-RNASEH2B-3	chr13:51066787-51066897	NONHSAT033815
13	lnc-RNASEH2B-3	chr13:51066787-51066897	NONHSAT033850
14	lnc-RNASEH2B-3	chr13:51066787-51066897	NR_109974
15	lnc-RNASEH2B-3	chr13:51066780-51066897	NONHSAT033861
16	lnc-RNASEH2B-3	chr13:51066787-51066897	XLOC_010390
17	lnc-RNASEH2B-3	chr13:51066787-51066897	NONHSAT033817
18	lnc-RNASEH2B-3	chr13:51066787-51066897	NONHSAT033812
19	lnc-RNASEH2B-3	chr13:51066787-51066897	NONHSAT033855
20	lnc-RNASEH2B-3	chr13:51066787-51066897	NONHSAT033819

No data

Variant related genes	Relation type
DLEU1	TF binding region
ENSG00000176124	chromatin interactions
NAGK	miRNA target sites

Extended variants
information (count: 199 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:199 , 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	rs189104650	chr13:51063148-51063149	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs192800145	chr13:51063197-51063198	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs184756087	chr13:51063209-51063210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189867809	chr13:51063215-51063216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9596298	chr13:51063244-51063245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181509675	chr13:51063276-51063277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186157440	chr13:51063283-51063284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189355882	chr13:51063311-51063312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559428520	chr13:51063322-51063323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113504373	chr13:51063356-51063357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529741142	chr13:51063363-51063364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181861635	chr13:51063399-51063400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146091222	chr13:51063402-51063403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186547370	chr13:51063413-51063414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79757244	chr13:51063642-51063643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143542366	chr13:51063688-51063689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551805225	chr13:51063692-51063693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190766036	chr13:51063693-51063694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73201339	chr13:51063698-51063699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566198948	chr13:51063766-51063767	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs531067045	chr13:51063786-51063787	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs148577974	chr13:51063828-51063829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77708358	chr13:51063833-51063834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182857931	chr13:51063884-51063885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575980013	chr13:51063912-51063913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142982144	chr13:51063936-51063937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186190111	chr13:51063958-51063959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149890	chr13:51063974-51063975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs541256708	chr13:51064098-51064099	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs191480071	chr13:51064102-51064103	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs182776499	chr13:51064157-51064158	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs529819191	chr13:51064213-51064214	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs151125291	chr13:51064262-51064263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs376509157	chr13:51065338-51065339	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs189252585	chr13:51065370-51065371	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs559904304	chr13:51065381-51065382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs34990324	chr13:51065386-51065387	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs374336717	chr13:51065421-51065422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs192156923	chr13:51065428-51065429	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs59137919	chr13:51065441-51065442	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs537116559	chr13:51065442-51065443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs28804811	chr13:51065465-51065466	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs550874375	chr13:51065483-51065484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs111910037	chr13:51065638-51065639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534928557	chr13:51065646-51065647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553033848	chr13:51065660-51065661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114457748	chr13:51065667-51065668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78663833	chr13:51065685-51065686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs157173	chr13:51065751-51065752	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559797822	chr13:51065810-51065811	Weak transcription	TF binding region	1 gene(s)	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51060800-51064000	Weak transcription	Aorta	Aorta
2	chr13:51064000-51064200	Enhancers	Aorta	Aorta
3	chr13:51065600-51068600	Weak transcription	HepG2	liver
4	chr13:51067200-51068000	Enhancers	Dnd41	blood
5	chr13:51067600-51069400	Enhancers	Fetal Thymus	thymus
6	chr13:51067800-51068000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:51067800-51068200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr13:51067800-51068400	Enhancers	K562	blood
9	chr13:51067800-51069000	Enhancers	Primary hematopoietic stem cells	blood
10	chr13:51067800-51069200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr13:51067800-51069200	Enhancers	Thymus	Thymus
12	chr13:51068000-51068200	Flanking Active TSS	Dnd41	blood
13	chr13:51068000-51068600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr13:51068000-51068600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr13:51068000-51069200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr13:51068000-51069400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr13:51068200-51068400	Enhancers	Dnd41	blood
18	chr13:51068200-51068800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr13:51068200-51069200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr13:51068200-51069200	Enhancers	Primary T cells from cord blood	blood
21	chr13:51068400-51068600	Flanking Active TSS	Dnd41	blood
22	chr13:51068400-51068800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr13:51068600-51070000	Enhancers	Dnd41	blood
24	chr13:51069000-51069400	Enhancers	Adipose Nuclei	Adipose
25	chr13:51075000-51075400	Enhancers	Thymus	Thymus
26	chr13:51075000-51075800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr13:51075000-51075800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr13:51075000-51075800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr13:51075200-51075800	Enhancers	K562	blood

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