Variant report

Variant	esv3343141
Chromosome Location	chr15:54551985-54554208
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	CTCF	chr15:54553782-54553865	A549	lung:	n/a	n/a
2	GATA3	chr15:54551999-54552366	T-47D	breast:	n/a	n/a
3	MAFK	chr15:54551862-54552039	HepG2	liver:	n/a	chr15:54551945-54551956 chr15:54551944-54551960 chr15:54551944-54551955
4	MAX	chr15:54552031-54552034	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:54553109..54555656-chr15:54556214..54557724,2	MCF-7	breast:

Variant related genes	Relation type
UNC13C	TF binding region
ENSG00000137766	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578047583	chr15:54552063-54552064	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs372082218	chr15:54552070-54552071	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs199743740	chr15:54552128-54552129	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs34057643	chr15:54552129-54552130	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368643547	chr15:54552130-54552131	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs560100895	chr15:54552152-54552153	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs566117352	chr15:54552171-54552172	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs573663341	chr15:54552224-54552225	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs190268528	chr15:54552229-54552230	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs563149254	chr15:54552234-54552235	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs531821237	chr15:54552242-54552243	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs551938738	chr15:54552260-54552261	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs142501738	chr15:54552268-54552269	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs181138407	chr15:54552270-54552271	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs533035684	chr15:54552296-54552297	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs11638873	chr15:54552302-54552303	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554533478	chr15:54552319-54552320	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs113915886	chr15:54552329-54552330	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs575975411	chr15:54552338-54552339	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs528849294	chr15:54552443-54552444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11629837	chr15:54552474-54552475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569127505	chr15:54552564-54552565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537696257	chr15:54552617-54552618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62011964	chr15:54552625-54552626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372586583	chr15:54552641-54552642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557913661	chr15:54552668-54552669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145660195	chr15:54552702-54552703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35399519	chr15:54552703-54552704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199973389	chr15:54552709-54552710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571684854	chr15:54552726-54552727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139480021	chr15:54552734-54552735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11635318	chr15:54552767-54552768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11630061	chr15:54552799-54552800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375321395	chr15:54552810-54552811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573700733	chr15:54552829-54552830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149670185	chr15:54552835-54552836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561203937	chr15:54552892-54552893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185548729	chr15:54552930-54552931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144426994	chr15:54552945-54552946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6493667	chr15:54552954-54552955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574578902	chr15:54552955-54552956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs5027653	chr15:54553028-54553029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs72730882	chr15:54553035-54553036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10707812	chr15:54553050-54553051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540335928	chr15:54553059-54553060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188690210	chr15:54553063-54553064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74221561	chr15:54553141-54553142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548960981	chr15:54553151-54553152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569085407	chr15:54553193-54553194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531620216	chr15:54553200-54553201	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54519000-54554400	Weak transcription	Aorta	Aorta
2	chr15:54547000-54652600	Weak transcription	Fetal Lung	lung
3	chr15:54552200-54552400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:54553400-54553600	Enhancers	A549	lung

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