Variant report

Variant	nsv826682
Chromosome Location	chr13:65530475-65551423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:488)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
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	CEBPB	chr13:65549489-65549824	HepG2	liver:	n/a	chr13:65549674-65549685 chr13:65549616-65549627
2	CEBPB	chr13:65530999-65531037	HepG2	liver:	n/a	chr13:65531013-65531026 chr13:65531015-65531026 chr13:65531010-65531027 chr13:65531013-65531024 chr13:65531013-65531026
3	CEBPB	chr13:65549486-65549834	IMR90	lung:	n/a	chr13:65549674-65549685 chr13:65549616-65549627
4	CTCF	chr13:65532436-65532505	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr13:65532360-65532510	Hela-S3	cervix:	n/a	n/a
6	E2F4	chr13:65547649-65547844	MCF10A-Er-Src	breast:	n/a	n/a
7	EBF1	chr13:65536445-65537003	GM12878	blood:	n/a	chr13:65536858-65536869
8	GATA3	chr13:65549508-65549701	SH-SY5Y	brain:	n/a	n/a
9	MAFK	chr13:65547264-65547300	HepG2	liver:	n/a	n/a
10	MAFK	chr13:65545237-65545355	HepG2	liver:	n/a	n/a
11	MYC	chr13:65533806-65534006	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr13:65532337-65532482	Gliobla	brain:	n/a	n/a
13	POLR2A	chr13:65532459-65532493	A549	lung:	n/a	n/a
14	POLR2A	chr13:65531425-65531475	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr13:65541281-65541345	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr13:65548870-65548948	MCF10A-Er-Src	breast:	n/a	n/a
17	TCF7L2	chr13:65545160-65545781	HEK293	kidney:	n/a	n/a
18	WRNIP1	chr13:65544551-65544678	GM12878	blood:	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	chr13:65532273-65532323	HPAEpiC	pulmonary alveolar:	n/a
2	chr13:65532581-65532631	AG09319	gingival:	n/a
3	chr13:65532796-65532846	MCF-7	breast:	n/a
4	chr13:65532273-65532323	SKMC	muscle:	n/a
5	chr13:65532581-65532631	GM12892	blood:	n/a
6	chr13:65533500-65533550	H1-hESC	embryonic stem cell:	embryo
7	chr13:65532878-65532928	MCF10A-Er-Src	breast:	n/a
8	chr13:65532273-65532323	AG09309	skin:	n/a
9	chr13:65532273-65532323	AG04449	skin:	fetal
10	chr13:65533139-65533189	SKMC	muscle:	n/a
11	chr13:65532273-65532323	Hela-S3	cervix:	n/a
12	chr13:65532878-65532928	SKMC	muscle:	n/a
13	chr13:65532273-65532323	NHBE	bronchial:	n/a
14	chr13:65533500-65533550	SK-N-MC	brain:	n/a
15	chr13:65532581-65532631	SK-N-SH	brain:	n/a
16	chr13:65532273-65532323	A549	lung:	n/a
17	chr13:65532878-65532928	ECC-1	luminal epithelium:	n/a
18	chr13:65532796-65532846	SK-N-SH	brain:	n/a
19	chr13:65533500-65533550	HCPEpiC	choroid plexus:	n/a
20	chr13:65532796-65532846	SK-N-MC	brain:	n/a
21	chr13:65532796-65532846	ECC-1	luminal epithelium:	n/a
22	chr13:65532820-65532870	IMR90	lung:	fetal
23	chr13:65533500-65533550	HRCEpiC	kidney:	n/a
24	chr13:65532273-65532323	T-47D	breast:	n/a
25	chr13:65532581-65532631	HCF	heart:	n/a
26	chr13:65532273-65532323	Caco-2	colon:	n/a
27	chr13:65532408-65532458	HCT-116	colon:	n/a
28	chr13:65532408-65532458	HIPEpiC	eye:	n/a
29	chr13:65532878-65532928	LNCaP	prostate:	n/a
30	chr13:65533139-65533189	LNCaP	prostate:	n/a
31	chr13:65532878-65532928	U87	brain:	n/a
32	chr13:65532408-65532458	A549	lung:	n/a
33	chr13:65532408-65532458	PrEC	prostate:	n/a
34	chr13:65532878-65532928	AoSMC	blood vessel:	n/a
35	chr13:65533139-65533189	A549	lung:	n/a
36	chr13:65532796-65532846	Hela-S3	cervix:	n/a
37	chr13:65532820-65532870	CMK	blood:	n/a
38	chr13:65533500-65533550	SK-N-SH_RA	brain:	n/a
39	chr13:65532273-65532323	ECC-1	luminal epithelium:	n/a
40	chr13:65532273-65532323	HCF	heart:	n/a
41	chr13:65532820-65532870	LNCaP	prostate:	n/a
42	chr13:65533500-65533550	NHBE	bronchial:	n/a
43	chr13:65532878-65532928	HIPEpiC	eye:	n/a
44	chr13:65533139-65533189	SK-N-SH	brain:	n/a
45	chr13:65532796-65532846	HCT-116	colon:	n/a
46	chr13:65533139-65533189	Jurkat	blood:	n/a
47	chr13:65532273-65532323	HUVEC	blood vessel:	n/a
48	chr13:65532796-65532846	HUVEC	blood vessel:	n/a
49	chr13:65532581-65532631	RPTEC	kidney:	n/a
50	chr13:65532878-65532928	AG09319	gingival:	n/a

No data

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

Extended variants
information (count: 85 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531676049	chr13:65533427-65533428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550260363	chr13:65533440-65533441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561901685	chr13:65533443-65533444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7140042	chr13:65533454-65533455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556142049	chr13:65533501-65533502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146012559	chr13:65533806-65533807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs181800091	chr13:65533812-65533813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs372003065	chr13:65533870-65533871	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs566065974	chr13:65533884-65533885	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs571521941	chr13:65533909-65533910	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs575691092	chr13:65533915-65533916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs77452631	chr13:65533919-65533920	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs201525684	chr13:65533921-65533922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs573482247	chr13:65533931-65533932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs376785878	chr13:65533935-65533936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs370240401	chr13:65533938-65533939	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs547836787	chr13:65533985-65533986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs183855280	chr13:65534006-65534007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs549884006	chr13:65536011-65536012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568186495	chr13:65536017-65536018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9317463	chr13:65536036-65536037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553974882	chr13:65536047-65536048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144916775	chr13:65536057-65536058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551185600	chr13:65536060-65536061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10467591	chr13:65536071-65536072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190727373	chr13:65536081-65536082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183436180	chr13:65536179-65536180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567167805	chr13:65536181-65536182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534292618	chr13:65536216-65536217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557332482	chr13:65536252-65536253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576350224	chr13:65536266-65536267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570249226	chr13:65536271-65536272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556717266	chr13:65536272-65536273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73202484	chr13:65536281-65536282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375237074	chr13:65536314-65536315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539216054	chr13:65536337-65536338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114539510	chr13:65536348-65536349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555421917	chr13:65536384-65536385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573095803	chr13:65536398-65536399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377116830	chr13:65536412-65536413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370271296	chr13:65536415-65536416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187972340	chr13:65536416-65536417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75254576	chr13:65536448-65536449	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs531022009	chr13:65536466-65536467	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs544745031	chr13:65536500-65536501	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs561515575	chr13:65536515-65536516	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs192823716	chr13:65536518-65536519	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs75792554	chr13:65536525-65536526	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs567004575	chr13:65536530-65536531	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs541144970	chr13:65536555-65536556	Enhancers	TF binding region	1 gene(s)	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65533400-65533600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:65536000-65537400	Enhancers	Fetal Intestine Small	intestine

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