Variant report

Variant	esv1850044
Chromosome Location	chr15:82680624-82724903
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	BATF	chr15:82717647-82717871	GM12878	blood:	n/a	n/a
2	CBX3	chr15:82703867-82704143	K562	blood:	n/a	n/a
3	CEBPD	chr15:82681500-82681862	K562	blood:	n/a	n/a
4	CTCF	chr15:82701985-82702018	GM20000	blood:	n/a	n/a
5	CTCF	chr15:82704016-82704040	GM13976	blood:	n/a	n/a
6	CTCF	chr15:82685060-82685076	Medullo	brain:	n/a	n/a
7	CTCF	chr15:82685019-82685042	Medullo	brain:	n/a	n/a
8	CTCF	chr15:82704287-82704343	GM13976	blood:	n/a	n/a
9	CTCF	chr15:82692768-82692841	Medullo	brain:	n/a	n/a
10	CTCF	chr15:82699427-82699489	GM13976	blood:	n/a	n/a
11	CTCF	chr15:82685013-82685038	GM13976	blood:	n/a	n/a
12	CTCF	chr15:82692407-82692453	GM13976	blood:	n/a	n/a
13	CTCF	chr15:82702766-82702824	GM20000	blood:	n/a	n/a
14	CTCF	chr15:82688568-82688588	LNCaP	prostate:	n/a	n/a
15	CTCF	chr15:82711295-82711378	GM20000	blood:	n/a	n/a
16	EBF1	chr15:82722727-82723025	GM12878	blood:	n/a	chr15:82722912-82722921 chr15:82722911-82722921
17	EBF1	chr15:82722721-82722972	GM12878	blood:	n/a	chr15:82722912-82722921 chr15:82722911-82722921
18	EBF1	chr15:82722085-82722301	GM12878	blood:	n/a	n/a
19	EBF1	chr15:82722005-82722394	GM12878	blood:	n/a	n/a
20	EP300	chr15:82723487-82723735	GM12878	blood:	n/a	n/a
21	FOSL2	chr15:82713080-82713574	HepG2	liver:	n/a	chr15:82713328-82713338 chr15:82713328-82713338 chr15:82713328-82713339 chr15:82713329-82713338 chr15:82713328-82713338 chr15:82713328-82713338
22	FOSL2	chr15:82722583-82723060	HepG2	liver:	n/a	chr15:82722935-82722944
23	FOSL2	chr15:82722036-82722324	HepG2	liver:	n/a	n/a
24	FOSL2	chr15:82707069-82707276	HepG2	liver:	n/a	n/a
25	FOSL2	chr15:82723498-82723865	HepG2	liver:	n/a	n/a
26	FOSL2	chr15:82713078-82713463	HepG2	liver:	n/a	chr15:82713328-82713338 chr15:82713328-82713338 chr15:82713328-82713339 chr15:82713329-82713338 chr15:82713328-82713338 chr15:82713328-82713338
27	FOXA1	chr15:82690072-82690418	HepG2	liver:	n/a	n/a
28	FOXA1	chr15:82706900-82707492	HepG2	liver:	n/a	n/a
29	FOXA1	chr15:82723519-82723935	HepG2	liver:	n/a	n/a
30	FOXA1	chr15:82694607-82694966	HepG2	liver:	n/a	n/a
31	FOXA1	chr15:82694107-82694527	HepG2	liver:	n/a	n/a
32	FOXA2	chr15:82706959-82707499	A549	lung:	n/a	n/a
33	GABPA	chr15:82722730-82722891	Hela-S3	cervix:	n/a	n/a
34	GABPA	chr15:82722571-82722971	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr15:82722138-82722255	Hela-S3	cervix:	n/a	n/a
36	GABPA	chr15:82713124-82713506	Hela-S3	cervix:	n/a	n/a
37	GATA2	chr15:82723702-82723987	K562	blood:	n/a	n/a
38	GATA2	chr15:82713079-82713496	K562	blood:	n/a	chr15:82713322-82713332
39	GATA2	chr15:82703845-82704206	K562	blood:	n/a	n/a
40	GATA2	chr15:82681440-82681895	K562	blood:	n/a	n/a
41	GATA2	chr15:82680336-82680719	K562	blood:	n/a	chr15:82680503-82680510
42	HEY1	chr15:82722119-82722346	HepG2	liver:	n/a	n/a
43	HEY1	chr15:82712750-82713054	K562	blood:	n/a	n/a
44	HEY1	chr15:82706870-82707208	HepG2	liver:	n/a	n/a
45	JUND	chr15:82713175-82713494	A549	lung:	n/a	chr15:82713328-82713338 chr15:82713328-82713338 chr15:82713329-82713338 chr15:82713328-82713338 chr15:82713328-82713338
46	JUND	chr15:82694268-82694396	HepG2	liver:	n/a	n/a
47	JUND	chr15:82722712-82723029	HepG2	liver:	n/a	chr15:82722935-82722944
48	JUND	chr15:82713202-82713430	HepG2	liver:	n/a	chr15:82713328-82713338 chr15:82713328-82713338 chr15:82713329-82713338 chr15:82713328-82713338 chr15:82713328-82713338
49	JUND	chr15:82722662-82722787	HepG2	liver:	n/a	n/a
50	JUND	chr15:82694238-82694500	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GOLGA6L9-2	chr15:82710841-82710997	NONHSAT047780
2	lnc-GOLGA6L9-2	chr15:82724031-82724418	NONHSAT047782
3	lnc-GOLGA6L9-2	chr15:82722223-82722368	NONHSAT047782
4	lnc-GOLGA6L9-2	chr15:82707733-82708217	NONHSAT140249
5	lnc-GOLGA6L9-2	chr15:82711573-82711596	NONHSAT047780
6	lnc-GOLGA6L9-2	chr15:82711413-82711452	NONHSAT047780
7	lnc-GOLGA6L9-2	chr15:82700493-82700572	NONHSAT047779
8	lnc-GOLGA6L9-2	chr15:82711413-82711452	NONHSAT047779
9	lnc-GOLGA6L9-2	chr15:82707732-82707880	NONHSAT047780
10	lnc-GOLGA6L9-2	chr15:82684055-82684164	NONHSAT047779
11	lnc-GOLGA6L9-2	chr15:82692871-82692927	NONHSAT047779
12	lnc-GOLGA6L9-2	chr15:82712185-82712277	NONHSAT047779
13	lnc-GOLGA6L9-2	chr15:82699336-82699510	NONHSAT047779
14	lnc-GOLGA6L9-2	chr15:82696818-82696957	NONHSAT047779
15	lnc-GOLGA6L9-2	chr15:82706886-82707009	NONHSAT140249
16	lnc-GOLGA6L9-2	chr15:82704867-82704929	NONHSAT047779

Variant related genes	Relation type
ENSG00000259206	TF binding region
GOLGA6L9	TF binding region
UBE2Q2P2	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200016279	chr15:82680677-82680678	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs549331711	chr15:82680717-82680718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs35050406	chr15:82691424-82691425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200675301	chr15:82691445-82691446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs55713306	chr15:82691453-82691454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs55916599	chr15:82691460-82691461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572143211	chr15:82691495-82691496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534725135	chr15:82691537-82691538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62011124	chr15:82702765-82702766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs62011130	chr15:82707890-82707891	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs62011133	chr15:82710972-82710973	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs382083	chr15:82722023-82722024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82691400-82691600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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