Variant report

Variant	nsv900721
Chromosome Location	chr13:85609277-85671505
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	BRCA1	chr13:85669014-85669111	GM12878	blood:	n/a	n/a
2	CEBPB	chr13:85646691-85646960	HepG2	liver:	n/a	n/a
3	CEBPB	chr13:85645107-85645368	Hela-S3	cervix:	n/a	chr13:85645332-85645343
4	CEBPB	chr13:85612064-85612136	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr13:85645141-85645432	HepG2	liver:	n/a	chr13:85645332-85645343
6	CTCF	chr13:85624540-85624690	BE2_C	brain:	n/a	n/a
7	CTCF	chr13:85634612-85634648	Lung_OC	lung:	n/a	n/a
8	CTCF	chr13:85624600-85624750	MCF-7	breast:	n/a	n/a
9	CTCF	chr13:85624546-85624707	MCF-7	breast:	n/a	n/a
10	CTCF	chr13:85609320-85609470	GM12869	blood:	n/a	n/a
11	CTCF	chr13:85624600-85624750	WERI-Rb-1	eye:	n/a	n/a
12	CTCF	chr13:85624520-85624749	MCF-7	breast:	n/a	n/a
13	CTCF	chr13:85643020-85643170	HRE	kidney:	n/a	n/a
14	CUX1	chr13:85613027-85613183	K562	blood:	n/a	n/a
15	E2F4	chr13:85637348-85637382	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chr13:85620331-85620613	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr13:85668091-85668291	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr13:85630665-85630817	MCF10A-Er-Src	breast:	n/a	n/a
19	EBF1	chr13:85625808-85626008	GM12878	blood:	n/a	chr13:85625835-85625846
20	EP300	chr13:85614333-85614723	SK-N-SH_RA	brain:	n/a	n/a
21	EP300	chr13:85614375-85614679	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr13:85670159-85670363	SK-N-SH_RA	brain:	n/a	n/a
23	EP300	chr13:85670169-85670397	SK-N-SH_RA	brain:	n/a	n/a
24	EP300	chr13:85614261-85615578	SK-N-SH	brain:	n/a	n/a
25	FOS	chr13:85633131-85633232	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr13:85649165-85649370	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr13:85667917-85668341	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr13:85620522-85620759	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr13:85667878-85668383	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr13:85667944-85668398	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr13:85667980-85668353	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr13:85649109-85649403	MCF10A-Er-Src	breast:	n/a	n/a
33	FOXP2	chr13:85668083-85668290	PFSK-1	brain:	n/a	n/a
34	GATA1	chr13:85656509-85657467	PBDE	blood:	n/a	n/a
35	GATA1	chr13:85654627-85655297	PBDE	blood:	n/a	n/a
36	GATA1	chr13:85654853-85655121	PBDEFetal	blood:	n/a	n/a
37	GATA1	chr13:85669904-85670553	PBDE	blood:	n/a	chr13:85670316-85670323 chr13:85670316-85670323 chr13:85670316-85670323 chr13:85670315-85670325
38	GATA2	chr13:85669723-85670460	SH-SY5Y	brain:	n/a	chr13:85670316-85670323 chr13:85670316-85670323 chr13:85670316-85670323 chr13:85670315-85670325
39	GATA3	chr13:85670014-85670611	SH-SY5Y	brain:	n/a	chr13:85670316-85670323 chr13:85670316-85670323 chr13:85670316-85670323 chr13:85670315-85670325
40	GATA3	chr13:85614300-85614694	SK-N-SH	brain:	n/a	chr13:85614462-85614483
41	GATA3	chr13:85613955-85614176	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr13:85620523-85620624	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr13:85669942-85670566	SK-N-SH	brain:	n/a	chr13:85670316-85670323 chr13:85670316-85670323 chr13:85670316-85670323 chr13:85670315-85670325
44	GATA3	chr13:85669566-85669958	MCF-7	breast:	n/a	n/a
45	GATA3	chr13:85614426-85614646	SH-SY5Y	brain:	n/a	chr13:85614462-85614483
46	GATA3	chr13:85628752-85628950	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr13:85670026-85670487	SK-N-SH	brain:	n/a	chr13:85670316-85670323 chr13:85670316-85670323 chr13:85670316-85670323 chr13:85670315-85670325
48	GATA3	chr13:85669544-85670070	MCF-7	breast:	n/a	n/a
49	GTF2F1	chr13:85670148-85670159	H1-hESC	embryonic stem cell:	n/a	n/a
50	IRF1	chr13:85643045-85643120	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:85665406..85665957-chr9:85236784..85237385,2	MCF-7	breast:
2	chr13:85624379..85624909-chr13:86373073..86373588,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-4	chr13:85642135-85642163	ENSG00000226370
2	lnc-SLITRK6-4	chr13:85652897-85653055	ENSG00000226370
3	lnc-SLITRK6-4	chr13:85639222-85639353	ENSG00000226370
4	lnc-SLITRK6-4	chr13:85650938-85651117	ENSG00000226370
5	lnc-SLITRK6-4	chr13:85649179-85649279	ENSG00000226370

Variant related genes	Relation type
LINC00375	TF binding region

Extended variants
information (count: 983 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:983 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2485247	chr13:85609277-85609278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145694551	chr13:85609301-85609302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115747362	chr13:85609302-85609303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181206019	chr13:85609319-85609320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187122430	chr13:85609335-85609336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371735843	chr13:85609366-85609367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569573192	chr13:85609374-85609375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531103724	chr13:85609381-85609382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79900334	chr13:85609440-85609441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148923036	chr13:85609442-85609443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535054652	chr13:85609528-85609529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147018732	chr13:85609536-85609537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565501266	chr13:85609551-85609552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189961851	chr13:85609560-85609561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557404573	chr13:85609584-85609585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575761737	chr13:85609594-85609595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536836316	chr13:85609601-85609602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555188025	chr13:85609617-85609618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573780294	chr13:85609645-85609646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72633375	chr13:85609664-85609665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559614489	chr13:85609733-85609734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577929887	chr13:85609752-85609753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559830747	chr13:85609756-85609757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78611616	chr13:85609760-85609761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138195377	chr13:85609787-85609788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531068730	chr13:85609819-85609820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549596601	chr13:85609823-85609824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561279737	chr13:85609839-85609840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143674065	chr13:85609850-85609851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546945364	chr13:85609874-85609875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113317199	chr13:85609875-85609876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539027829	chr13:85609886-85609887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115689049	chr13:85609910-85609911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569405445	chr13:85609932-85609933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536698195	chr13:85609933-85609934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114264090	chr13:85609941-85609942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369209740	chr13:85609971-85609972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531038441	chr13:85609981-85609982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534064046	chr13:85610050-85610051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145908599	chr13:85610056-85610057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558995240	chr13:85610057-85610058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77879164	chr13:85610100-85610101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552968583	chr13:85610229-85610230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12866453	chr13:85610236-85610237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112455294	chr13:85610248-85610249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538042241	chr13:85610261-85610262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563719486	chr13:85610269-85610270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555895333	chr13:85610279-85610280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538818344	chr13:85610284-85610285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375066028	chr13:85610301-85610302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85598800-85609600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:85608600-85615600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:85615600-85616200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:85627000-85627200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr13:85627200-85628600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr13:85628600-85629400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr13:85629400-85631800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr13:85631800-85632000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr13:85642000-85642800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr13:85642000-85643200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:85643000-85643400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:85643000-85643600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:85650400-85651200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr13:85651200-85654800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr13:85651400-85652000	Enhancers	Fetal Lung	lung
16	chr13:85654400-85654800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:85654800-85655600	Enhancers	Fetal Heart	heart
18	chr13:85654800-85655800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr13:85665600-85666800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr13:85665600-85666800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:85665800-85667200	Enhancers	NHEK	skin
22	chr13:85667200-85667600	Weak transcription	NHEK	skin
23	chr13:85667600-85668600	Enhancers	NHEK	skin
24	chr13:85667800-85668200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:85668000-85668600	Enhancers	HMEC	breast
26	chr13:85670200-85670400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:85670600-85671600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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