Variant report

Variant	esv3375083
Chromosome Location	chr19:38031443-38035328
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	STAT3	chr19:38031459-38031731	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38027296..38029618-chr19:38032847..38035572,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF570-3	chr19:38033110-38034198	NONHSAT066125
2	lnc-ZNF570-3	chr19:38033110-38034198	NONHSAT066126

Variant related genes	Relation type
ZNF571-AS1	TF binding region

Extended variants
information (count: 115 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368745575	chr19:38031450-38031451	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374754813	chr19:38031460-38031461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540695785	chr19:38031467-38031468	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559282807	chr19:38031476-38031477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189233806	chr19:38031477-38031478	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564633533	chr19:38031492-38031493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529987468	chr19:38031512-38031513	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541728195	chr19:38031625-38031626	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs563204530	chr19:38031651-38031652	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs114899421	chr19:38031668-38031669	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs552322078	chr19:38031735-38031736	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs570886414	chr19:38031758-38031759	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs528570363	chr19:38031793-38031794	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372343945	chr19:38031804-38031805	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs546718422	chr19:38031817-38031818	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs193097727	chr19:38031829-38031830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs535801014	chr19:38031833-38031834	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs200556445	chr19:38031852-38031853	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs955476	chr19:38031882-38031883	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569536490	chr19:38031916-38031917	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs539665564	chr19:38031935-38031936	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs73031309	chr19:38031984-38031985	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs576897759	chr19:38031996-38031997	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs146009576	chr19:38032040-38032041	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111689603	chr19:38032055-38032056	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs367927459	chr19:38032097-38032098	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs397823023	chr19:38032098-38032099	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs201114648	chr19:38032099-38032100	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs375013937	chr19:38032100-38032101	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs368947963	chr19:38032169-38032170	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs562863344	chr19:38032228-38032229	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs188345569	chr19:38032301-38032302	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs180755559	chr19:38032324-38032325	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs530812689	chr19:38032332-38032333	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs12608477	chr19:38032410-38032411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs564297702	chr19:38032445-38032446	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs543662846	chr19:38032597-38032598	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs547330967	chr19:38032609-38032610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs528625188	chr19:38032625-38032626	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs547074388	chr19:38032626-38032627	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs146269324	chr19:38032756-38032757	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs148404230	chr19:38032758-38032759	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs375087932	chr19:38032774-38032775	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs142496473	chr19:38032811-38032812	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs569597812	chr19:38032824-38032825	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs540108347	chr19:38032841-38032842	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs77771184	chr19:38032913-38032914	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs12608818	chr19:38032917-38032918	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs567060299	chr19:38032937-38032938	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs576446506	chr19:38033044-38033045	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	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
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Cystinuria	21255007	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38021800-38031600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:38022200-38037000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:38022400-38032800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr19:38029800-38042000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:38030400-38037800	Weak transcription	Fetal Heart	heart
6	chr19:38032400-38080800	ZNF genes & repeats	Liver	Liver
7	chr19:38032600-38032800	ZNF genes & repeats	Brain Germinal Matrix	brain
8	chr19:38032600-38075200	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr19:38034000-38034200	ZNF genes & repeats	Fetal Brain Female	brain
10	chr19:38034200-38036200	ZNF genes & repeats	Left Ventricle	heart
11	chr19:38034800-38036400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:38035000-38036000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:38035000-38042800	ZNF genes & repeats	Brain Hippocampus Middle	brain

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