Variant report

Variant	esv3365822
Chromosome Location	chr19:47558062-47560860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:47559138..47562031-chr19:47586588..47588278,2	K562	blood:

Extended variants
information (count: 147 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372774188	chr19:47558080-47558081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183541179	chr19:47558087-47558088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532207158	chr19:47558088-47558089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536607290	chr19:47558187-47558188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376292049	chr19:47558205-47558206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367640848	chr19:47558207-47558208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188738166	chr19:47558215-47558216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139305019	chr19:47558218-47558219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192008398	chr19:47558244-47558245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544754630	chr19:47558245-47558246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549774909	chr19:47558250-47558251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34999865	chr19:47558274-47558275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183392454	chr19:47558281-47558282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541733474	chr19:47558303-47558304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150043133	chr19:47558320-47558321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530441408	chr19:47558329-47558330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375749263	chr19:47558361-47558362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147716132	chr19:47558371-47558372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140887867	chr19:47558380-47558381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371746594	chr19:47558390-47558391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11670435	chr19:47558395-47558396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559099045	chr19:47558413-47558414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528304149	chr19:47558414-47558415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147944793	chr19:47558427-47558428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567984788	chr19:47558476-47558477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537353214	chr19:47558516-47558517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376698853	chr19:47558528-47558529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528992321	chr19:47558537-47558538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547048561	chr19:47558573-47558574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143021653	chr19:47558576-47558577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58658028	chr19:47558599-47558600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs112839768	chr19:47558616-47558617	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs572992646	chr19:47558625-47558626	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs187713371	chr19:47558634-47558635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs145490582	chr19:47558636-47558637	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs574994326	chr19:47558664-47558665	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs557781144	chr19:47558694-47558695	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs563531030	chr19:47558703-47558704	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs577197032	chr19:47558706-47558707	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs191611942	chr19:47558715-47558716	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs138040311	chr19:47558735-47558736	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs569963200	chr19:47558739-47558740	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs142530129	chr19:47558745-47558746	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs184440090	chr19:47558746-47558747	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs34932967	chr19:47558754-47558755	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs561552679	chr19:47558798-47558799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs188120891	chr19:47558828-47558829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574844822	chr19:47558833-47558834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112239972	chr19:47558845-47558846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570339005	chr19:47558885-47558886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Muscular dystrophy	17160897	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Glioblastoma multiforme	21569311	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:47551800-47561000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:47552000-47558600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:47552200-47568200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:47552800-47567000	Weak transcription	NHLF	lung
5	chr19:47553000-47567000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:47553000-47567800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:47553200-47559600	Weak transcription	Hela-S3	cervix
8	chr19:47556400-47567000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr19:47557200-47560000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:47558000-47582800	Weak transcription	Right Atrium	heart
11	chr19:47558600-47558800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:47558800-47560600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:47559200-47559800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:47559600-47560000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr19:47559600-47560800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:47559600-47561800	Enhancers	Hela-S3	cervix
17	chr19:47559600-47561800	Enhancers	HepG2	liver
18	chr19:47559600-47563200	Enhancers	Fetal Intestine Large	intestine
19	chr19:47559600-47564000	Enhancers	Placenta	Placenta
20	chr19:47559600-47568000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:47559800-47560000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:47559800-47560000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:47559800-47560000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:47559800-47560200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:47559800-47560200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr19:47559800-47561000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:47559800-47561000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:47559800-47561200	Enhancers	NH-A	brain
29	chr19:47559800-47561400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:47559800-47561400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:47560000-47560200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:47560000-47561000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr19:47560000-47561800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:47560000-47565400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr19:47560000-47566000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:47560200-47561200	Enhancers	Fetal Thymus	thymus
37	chr19:47560200-47561800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:47560200-47567000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:47560200-47584400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:47560400-47561000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:47560400-47561200	Enhancers	Fetal Intestine Small	intestine
42	chr19:47560400-47561400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:47560400-47562000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:47560600-47560800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr19:47560600-47561000	Enhancers	K562	blood
46	chr19:47560600-47562400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:47560600-47562400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr19:47560800-47561000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:47560800-47561000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr19:47560800-47561200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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