Variant report

Variant	esv1847969
Chromosome Location	chr19:28528289-28554462
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	CEBPB	chr19:28540734-28541094	K562	blood:	n/a	chr19:28540900-28540911
2	CEBPB	chr19:28530474-28530807	MCF-7	breast:	n/a	n/a
3	CEBPB	chr19:28531517-28531724	A549	lung:	n/a	chr19:28531625-28531636 chr19:28531625-28531636
4	CTCF	chr19:28554400-28554550	K562	blood:	n/a	n/a
5	CTCF	chr19:28541810-28541814	GM10266	blood:	n/a	n/a
6	CTCF	chr19:28541817-28541866	GM10266	blood:	n/a	n/a
7	CTCF	chr19:28537900-28538050	HEK293	kidney:	n/a	n/a
8	E2F4	chr19:28552233-28552256	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr19:28537100-28537112	HepG2	liver:	n/a	n/a
10	FOXA2	chr19:28541869-28542421	A549	lung:	n/a	n/a
11	MAX	chr19:28530507-28530943	ECC-1	luminal epithelium:	n/a	chr19:28530687-28530696 chr19:28530688-28530695 chr19:28530687-28530696
12	NFIC	chr19:28530514-28530964	ECC-1	luminal epithelium:	n/a	n/a
13	NR2F2	chr19:28529081-28529482	MCF-7	breast:	n/a	n/a
14	POLR2A	chr19:28548505-28548531	MCF-7	breast:	n/a	n/a
15	POLR2A	chr19:28531176-28531197	K562	blood:	n/a	n/a
16	SETDB1	chr19:28532493-28532798	U2OS	brain:	n/a	n/a
17	SPI1	chr19:28546254-28546707	GM12878	blood:	n/a	n/a
18	SPI1	chr19:28546344-28546533	GM12878	blood:	n/a	n/a
19	TAL1	chr19:28540802-28541085	K562	blood:	n/a	n/a
20	USF1	chr19:28530512-28530907	ECC-1	luminal epithelium:	n/a	n/a
21	USF1	chr19:28530569-28530929	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:28539840..28540682-chr5:3520532..3521075,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267509	TF binding region

Extended variants
information (count: 389 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543134975	chr19:28528800-28528801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368411612	chr19:28528845-28528846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561309554	chr19:28528854-28528855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374861693	chr19:28528898-28528899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10404243	chr19:28528961-28528962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372046385	chr19:28528973-28528974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551508202	chr19:28528979-28528980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144903970	chr19:28528980-28528981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140763696	chr19:28529039-28529040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180930124	chr19:28529052-28529053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35289746	chr19:28529073-28529074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571020434	chr19:28529131-28529132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569426794	chr19:28529147-28529148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376849506	chr19:28529150-28529151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536009992	chr19:28529201-28529202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367548991	chr19:28529219-28529220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554247399	chr19:28529238-28529239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566190156	chr19:28529257-28529258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533559508	chr19:28529339-28529340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558103460	chr19:28529341-28529342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577090522	chr19:28529381-28529382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533585749	chr19:28529405-28529406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77615488	chr19:28529410-28529411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115455632	chr19:28529424-28529425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567196789	chr19:28529504-28529505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574571612	chr19:28529510-28529511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541996999	chr19:28529530-28529531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561374884	chr19:28529536-28529537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528560412	chr19:28529543-28529544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540661230	chr19:28529545-28529546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183716524	chr19:28529551-28529552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535479603	chr19:28529553-28529554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189254214	chr19:28529593-28529594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532736157	chr19:28529635-28529636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73025336	chr19:28529638-28529639	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs569405939	chr19:28529692-28529693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113206693	chr19:28529694-28529695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78028581	chr19:28529700-28529701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548343588	chr19:28529753-28529754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370956076	chr19:28529765-28529766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566253939	chr19:28529777-28529778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143149128	chr19:28529781-28529782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558162675	chr19:28529791-28529792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570415951	chr19:28529798-28529799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570799590	chr19:28529803-28529804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557581008	chr19:28529804-28529805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575920513	chr19:28529805-28529806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs3049024	chr19:28529809-28529810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537795605	chr19:28529828-28529829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201117575	chr19:28529829-28529830	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:28528800-28530200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:28529000-28529600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:28529000-28530000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:28529000-28532600	Enhancers	Adipose Nuclei	Adipose
5	chr19:28530600-28531000	Enhancers	Pancreas	Pancrea
6	chr19:28530800-28531000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr19:28530800-28531400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:28531200-28532000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr19:28531400-28532400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:28532000-28532400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr19:28532400-28532800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:28532600-28533400	Weak transcription	Adipose Nuclei	Adipose
13	chr19:28532800-28533600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:28533400-28533800	Enhancers	Adipose Nuclei	Adipose
15	chr19:28534600-28534800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:28537000-28539000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr19:28542200-28542600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr19:28543400-28543800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:28548400-28548600	ZNF genes & repeats	Esophagus	oesophagus

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