Variant report

Variant	nsv900376
Chromosome Location	chr13:65508132-65564600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:488)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr13:65512859-65513178	GM12878	blood:	n/a	n/a
2	BCL11A	chr13:65512818-65513084	GM12878	blood:	n/a	n/a
3	BHLHE40	chr13:65512810-65513130	GM12878	blood:	n/a	n/a
4	CEBPB	chr13:65549486-65549834	IMR90	lung:	n/a	chr13:65549674-65549685 chr13:65549616-65549627
5	CEBPB	chr13:65530999-65531037	HepG2	liver:	n/a	chr13:65531013-65531026 chr13:65531015-65531026 chr13:65531010-65531027 chr13:65531013-65531024 chr13:65531013-65531026
6	CEBPB	chr13:65549489-65549824	HepG2	liver:	n/a	chr13:65549674-65549685 chr13:65549616-65549627
7	CTCF	chr13:65519390-65519427	Gliobla	brain:	n/a	chr13:65519402-65519423
8	CTCF	chr13:65552346-65552377	GM13976	blood:	n/a	n/a
9	CTCF	chr13:65519300-65519450	HMEC	breast:	n/a	chr13:65519402-65519423
10	CTCF	chr13:65530122-65530177	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr13:65551897-65551982	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr13:65519300-65519450	AG10803	skin:	n/a	chr13:65519402-65519423
13	CTCF	chr13:65532436-65532505	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr13:65515436-65515516	GM10248	blood:	n/a	n/a
15	CTCF	chr13:65532360-65532510	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr13:65519280-65519430	HPAF	blood vessel:	n/a	chr13:65519402-65519423
17	CTCF	chr13:65519380-65519530	HMEC	breast:	n/a	chr13:65519402-65519423
18	CTCF	chr13:65559841-65559911	Lung_OC	lung:	n/a	n/a
19	CTCF	chr13:65519389-65519432	ProgFib	skin:	n/a	chr13:65519402-65519423
20	CTCF	chr13:65519389-65519419	Hela-S3	cervix:	n/a	n/a
21	E2F4	chr13:65517477-65517669	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr13:65547649-65547844	MCF10A-Er-Src	breast:	n/a	n/a
23	EBF1	chr13:65536445-65537003	GM12878	blood:	n/a	chr13:65536858-65536869
24	EBF1	chr13:65509142-65509415	GM12878	blood:	n/a	n/a
25	EBF1	chr13:65557201-65557433	GM12878	blood:	n/a	n/a
26	EBF1	chr13:65557179-65557449	GM12878	blood:	n/a	n/a
27	EP300	chr13:65510929-65511717	SK-N-SH	brain:	n/a	n/a
28	EP300	chr13:65510960-65511432	SK-N-SH_RA	brain:	n/a	n/a
29	EP300	chr13:65508704-65509061	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr13:65509511-65509945	SK-N-SH_RA	brain:	n/a	n/a
31	EP300	chr13:65511003-65511431	SK-N-SH_RA	brain:	n/a	n/a
32	EP300	chr13:65508629-65509301	SK-N-SH	brain:	n/a	n/a
33	EP300	chr13:65510929-65511693	SK-N-SH	brain:	n/a	n/a
34	EP300	chr13:65508651-65509180	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr13:65509514-65509971	SK-N-SH_RA	brain:	n/a	n/a
36	EP300	chr13:65510747-65511836	SK-N-SH	brain:	n/a	n/a
37	EP300	chr13:65509262-65509419	GM12878	blood:	n/a	n/a
38	EP300	chr13:65509134-65509485	GM12878	blood:	n/a	n/a
39	FOS	chr13:65528741-65528769	MCF10A-Er-Src	breast:	n/a	n/a
40	FOXM1	chr13:65510811-65511510	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr13:65511140-65511311	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr13:65510785-65511813	SK-N-SH	brain:	n/a	n/a
43	GATA3	chr13:65509490-65510048	SK-N-SH	brain:	n/a	n/a
44	GATA3	chr13:65509531-65510088	SK-N-SH	brain:	n/a	n/a
45	GATA3	chr13:65513512-65513615	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr13:65508517-65509330	SK-N-SH	brain:	n/a	n/a
47	GATA3	chr13:65549508-65549701	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr13:65508764-65509131	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr13:65510813-65511839	SK-N-SH	brain:	n/a	n/a
50	GATA3	chr13:65508465-65509392	SK-N-SH	brain:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:65532820-65532870	NHBE	bronchial:	n/a
2	chr13:65532408-65532458	CMK	blood:	n/a
3	chr13:65533500-65533550	BE2_C	brain:	n/a
4	chr13:65532273-65532323	RPTEC	kidney:	n/a
5	chr13:65532408-65532458	GM19239	blood:	n/a
6	chr13:65532273-65532323	K562	blood:	n/a
7	chr13:65532273-65532323	PrEC	prostate:	n/a
8	chr13:65532273-65532323	T-47D	breast:	n/a
9	chr13:65533500-65533550	Jurkat	blood:	n/a
10	chr13:65532820-65532870	AoSMC	blood vessel:	n/a
11	chr13:65532273-65532323	HCPEpiC	choroid plexus:	n/a
12	chr13:65533139-65533189	BE2_C	brain:	n/a
13	chr13:65532581-65532631	PrEC	prostate:	n/a
14	chr13:65532820-65532870	HCM	heart:	n/a
15	chr13:65533139-65533189	NT2-D1	testis:	n/a
16	chr13:65532820-65532870	HCT-116	colon:	n/a
17	chr13:65533500-65533550	Hepatocyte	liver:	n/a
18	chr13:65532581-65532631	U87	brain:	n/a
19	chr13:65532408-65532458	HepG2	liver:	n/a
20	chr13:65532820-65532870	ovcar-3	ovarian:	n/a
21	chr13:65532408-65532458	LNCaP	prostate:	n/a
22	chr13:65533139-65533189	PANC-1	pancreas:	n/a
23	chr13:65532408-65532458	GM12878	blood:	n/a
24	chr13:65533500-65533550	HL-60	blood:	n/a
25	chr13:65532878-65532928	AG09319	gingival:	n/a
26	chr13:65532796-65532846	HL-60	blood:	n/a
27	chr13:65532796-65532846	CMK	blood:	n/a
28	chr13:65532581-65532631	RPTEC	kidney:	n/a
29	chr13:65532796-65532846	NT2-D1	testis:	n/a
30	chr13:65532581-65532631	K562	blood:	n/a
31	chr13:65533500-65533550	SK-N-MC	brain:	n/a
32	chr13:65532796-65532846	MCF10A-Er-Src	breast:	n/a
33	chr13:65532820-65532870	U87	brain:	n/a
34	chr13:65532820-65532870	A549	lung:	n/a
35	chr13:65532878-65532928	NT2-D1	testis:	n/a
36	chr13:65532273-65532323	HRPEpiC	eye:	n/a
37	chr13:65533139-65533189	AG09309	skin:	n/a
38	chr13:65532408-65532458	K562	blood:	n/a
39	chr13:65532273-65532323	Hepatocyte	liver:	n/a
40	chr13:65532796-65532846	AG04450	lung:	fetal
41	chr13:65532878-65532928	LNCaP	prostate:	n/a
42	chr13:65532820-65532870	K562	blood:	n/a
43	chr13:65533500-65533550	SAEC	small airway:	n/a
44	chr13:65532796-65532846	A549	lung:	n/a
45	chr13:65532878-65532928	HRPEpiC	eye:	n/a
46	chr13:65532408-65532458	AG10803	skin:	n/a
47	chr13:65532581-65532631	AG09319	gingival:	n/a
48	chr13:65532878-65532928	ProgFib	skin:	n/a
49	chr13:65532796-65532846	SAEC	small airway:	n/a
50	chr13:65532820-65532870	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:65512386..65514959-chr13:65519104..65520898,2	K562	blood:
2	chr13:65512386..65514959-chr13:65519104..65520898,2	K562	blood:

No data

Variant related genes	Relation type
LGMNP1	TF binding region
LGMNP1	CpG island

Extended variants
information (count: 486 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7324889	chr13:65508132-65508133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149528523	chr13:65508217-65508218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145978248	chr13:65508431-65508432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550335631	chr13:65508448-65508449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182588757	chr13:65508462-65508463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187721579	chr13:65508468-65508469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554976861	chr13:65508525-65508526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552852720	chr13:65508529-65508530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566855882	chr13:65508544-65508545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190311589	chr13:65508562-65508563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558987031	chr13:65508590-65508591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113573328	chr13:65508624-65508625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575620916	chr13:65508661-65508662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544732533	chr13:65508663-65508664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555158935	chr13:65508690-65508691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138820542	chr13:65508699-65508700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566773707	chr13:65508715-65508716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575087128	chr13:65508745-65508746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540922540	chr13:65508753-65508754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560660264	chr13:65508765-65508766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534251659	chr13:65508781-65508782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559097094	chr13:65508785-65508786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371697827	chr13:65508836-65508837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544709128	chr13:65508841-65508842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564919237	chr13:65508863-65508864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115901314	chr13:65508864-65508865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182579016	chr13:65508881-65508882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567076189	chr13:65508891-65508892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529886801	chr13:65508893-65508894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7994510	chr13:65508935-65508936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142778954	chr13:65508958-65508959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538944711	chr13:65509026-65509027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558644215	chr13:65509073-65509074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76195165	chr13:65509087-65509088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538293598	chr13:65509141-65509142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560116222	chr13:65509147-65509148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555144935	chr13:65509164-65509165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575074718	chr13:65509174-65509175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532497061	chr13:65509192-65509193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141637311	chr13:65509219-65509220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554427816	chr13:65509253-65509254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556563543	chr13:65509299-65509300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187616948	chr13:65509323-65509324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192105455	chr13:65509329-65509330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150502457	chr13:65509350-65509351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531186704	chr13:65509374-65509375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139990869	chr13:65509381-65509382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185861057	chr13:65509388-65509389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7330513	chr13:65509393-65509394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188751383	chr13:65509398-65509399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Multiple myeloma	17550852	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65504400-65511600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr13:65511600-65512000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr13:65512000-65512200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:65512200-65512600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr13:65514200-65514800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:65514800-65516000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:65516000-65518200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:65518200-65518400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:65519000-65519600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:65519200-65519600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:65533400-65533600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:65536000-65537400	Enhancers	Fetal Intestine Small	intestine

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