Variant report

Variant	nsv562097
Chromosome Location	chr13:66791133-66843296
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	ATF2	chr13:66798630-66799137	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL11A	chr13:66798756-66799093	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL11A	chr13:66798709-66799125	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr13:66811924-66811972	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr13:66840058-66840316	IMR90	lung:	n/a	chr13:66840131-66840144 chr13:66840121-66840133
6	CEBPB	chr13:66797170-66797323	A549	lung:	n/a	n/a
7	CEBPB	chr13:66808370-66808515	HepG2	liver:	n/a	chr13:66808482-66808493
8	CEBPB	chr13:66808314-66808671	HepG2	liver:	n/a	chr13:66808482-66808493
9	CEBPB	chr13:66798751-66799318	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr13:66840059-66840240	HepG2	liver:	n/a	chr13:66840131-66840144 chr13:66840121-66840133
11	CHD2	chr13:66798730-66799172	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr13:66796971-66797004	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr13:66798900-66799050	BE2_C	brain:	n/a	n/a
14	CTCF	chr13:66839680-66839830	RPTEC	kidney:	n/a	n/a
15	CTCF	chr13:66811900-66812050	HPF	lung:	n/a	n/a
16	CTCF	chr13:66839600-66839750	HA-sp	spinal cord:	n/a	n/a
17	CTCF	chr13:66839540-66839690	HAc	cerebellar:	n/a	n/a
18	CTCF	chr13:66822520-66822670	GM12864	blood:	n/a	n/a
19	CTCF	chr13:66811840-66811990	RPTEC	kidney:	n/a	n/a
20	CTCF	chr13:66839580-66839730	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr13:66802671-66802708	Lung_OC	lung:	n/a	n/a
22	CTCF	chr13:66811980-66812130	RPTEC	kidney:	n/a	chr13:66812040-66812061 chr13:66812038-66812056
23	CTCF	chr13:66839640-66839790	HRE	kidney:	n/a	n/a
24	CTCF	chr13:66839620-66839770	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr13:66801778-66801801	LNCaP	prostate:	n/a	n/a
26	CTCF	chr13:66839620-66839770	HRE	kidney:	n/a	n/a
27	CTCF	chr13:66807780-66807930	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr13:66811960-66812110	HCPEpiC	choroid plexus:	n/a	chr13:66812040-66812061 chr13:66812038-66812056
29	CTCF	chr13:66792998-66793035	Medullo	brain:	n/a	n/a
30	CTCF	chr13:66839520-66839670	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr13:66811920-66812070	Caco-2	colon:	n/a	chr13:66812040-66812061 chr13:66812038-66812056
32	CTCF	chr13:66811940-66812090	HCPEpiC	choroid plexus:	n/a	chr13:66812040-66812061 chr13:66812038-66812056
33	CTCF	chr13:66811940-66812090	HRPEpiC	eye:	n/a	chr13:66812040-66812061 chr13:66812038-66812056
34	EBF1	chr13:66796294-66796518	GM12878	blood:	n/a	chr13:66796448-66796459
35	EBF1	chr13:66796274-66796648	GM12878	blood:	n/a	chr13:66796448-66796459
36	EGR1	chr13:66798652-66799141	H1-hESC	embryonic stem cell:	n/a	n/a
37	EGR1	chr13:66798675-66799078	H1-hESC	embryonic stem cell:	n/a	n/a
38	EP300	chr13:66797134-66797360	GM12878	blood:	n/a	n/a
39	EP300	chr13:66798828-66799128	H1-hESC	embryonic stem cell:	n/a	n/a
40	EP300	chr13:66838935-66839724	ECC-1	luminal epithelium:	n/a	n/a
41	EP300	chr13:66798745-66799158	H1-hESC	embryonic stem cell:	n/a	n/a
42	EP300	chr13:66839046-66839051	K562	blood:	n/a	n/a
43	FAM48A	chr13:66837213-66837386	GM12878	blood:	n/a	n/a
44	FOXA1	chr13:66833293-66833549	HepG2	liver:	n/a	n/a
45	FOXA2	chr13:66833165-66833602	A549	lung:	n/a	n/a
46	FOXA2	chr13:66801270-66801670	A549	lung:	n/a	n/a
47	FOXA2	chr13:66833118-66833730	A549	lung:	n/a	n/a
48	GATA2	chr13:66792695-66793097	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr13:66795450-66796012	SK-N-SH	brain:	n/a	n/a
50	GATA3	chr13:66815370-66815488	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:66824109..66824810-chr16:71735977..71736631,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH9-1	chr13:66805874-66806206	ENSG00000250631
2	lnc-AL445989.1-26	chr13:66843129-66844590	NONHSAT034207

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4704-5p	chr13:66792391-66792412	MIMAT0019803
hsa-miR-4704-3p	chr13:66792428-66792449	MIMAT0019804

Variant related genes	Relation type
MIR4704	TF binding region
TRIM60P19	TF binding region

Extended variants
information (count: 1107 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1107 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1322731	chr13:66791133-66791134	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35769855	chr13:66791151-66791152	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146413799	chr13:66791224-66791225	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375718358	chr13:66791227-66791228	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191871468	chr13:66791235-66791236	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182626832	chr13:66791247-66791248	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140814927	chr13:66791308-66791309	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573680839	chr13:66791312-66791313	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187625714	chr13:66791323-66791324	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1322732	chr13:66791342-66791343	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs60728761	chr13:66791409-66791410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1322733	chr13:66791428-66791429	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs573550982	chr13:66791441-66791442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542558776	chr13:66791481-66791482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559556997	chr13:66791493-66791494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572991771	chr13:66791494-66791495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193220032	chr13:66791503-66791504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565065424	chr13:66791509-66791510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577697958	chr13:66791529-66791530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545066773	chr13:66791552-66791553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550624603	chr13:66791623-66791624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56226431	chr13:66791631-66791632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1322734	chr13:66791656-66791657	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564074003	chr13:66791688-66791689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530058509	chr13:66791692-66791693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1322735	chr13:66791724-66791725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542524385	chr13:66791771-66791772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567145346	chr13:66791774-66791775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374861264	chr13:66791867-66791868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76100932	chr13:66791883-66791884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2146357	chr13:66791905-66791906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528490573	chr13:66791912-66791913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552784959	chr13:66791933-66791934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185649690	chr13:66791935-66791936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537163296	chr13:66791952-66791953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557046695	chr13:66792032-66792033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368072555	chr13:66792033-66792034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113607032	chr13:66792036-66792037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546646568	chr13:66792037-66792038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553039752	chr13:66792187-66792188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28431087	chr13:66792214-66792215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573070924	chr13:66792217-66792218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371837883	chr13:66792240-66792241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565269304	chr13:66792285-66792286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73499999	chr13:66792301-66792302	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs116174338	chr13:66792318-66792319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544303566	chr13:66792346-66792347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561393762	chr13:66792359-66792360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530079914	chr13:66792362-66792363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532970894	chr13:66792393-66792394	Enhancers	miRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	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
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66790000-66800400	Enhancers	Dnd41	blood
2	chr13:66790400-66791400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:66790600-66791400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr13:66790600-66791400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr13:66790800-66791400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:66792200-66794600	Enhancers	Fetal Thymus	thymus
7	chr13:66792800-66793200	Enhancers	Thymus	Thymus
8	chr13:66793000-66793400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:66793200-66793600	Weak transcription	Thymus	Thymus
10	chr13:66793400-66793600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:66793600-66793800	Enhancers	Thymus	Thymus
12	chr13:66793600-66794000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:66793800-66794800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:66793800-66795000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr13:66793800-66795200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
16	chr13:66793800-66798200	Weak transcription	Thymus	Thymus
17	chr13:66794000-66795000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr13:66794000-66795200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr13:66794000-66795600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr13:66794000-66798600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:66794200-66794400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr13:66794200-66794400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:66794200-66794600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr13:66794200-66794800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr13:66794200-66795200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:66794400-66794600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
27	chr13:66794400-66794600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr13:66794800-66799400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:66795000-66795200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:66795200-66798800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:66796000-66797000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:66796400-66796600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr13:66796400-66796600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
34	chr13:66796400-66797000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
35	chr13:66796800-66797000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
36	chr13:66797000-66797400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr13:66797000-66797800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr13:66797000-66797800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:66797000-66798000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:66797400-66797600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
41	chr13:66797400-66800600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
42	chr13:66797600-66797800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr13:66797600-66798000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr13:66797600-66800600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr13:66797800-66798000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:66797800-66798600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr13:66797800-66798800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr13:66797800-66799000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
49	chr13:66798000-66798200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:66798000-66799000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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