Variant report

Variant	nsv963059
Chromosome Location	chr19:44621739-44622714
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	chr19:44622435-44622500	Kidney_OC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44617932..44619818-chr19:44621419..44624956,3	K562	blood:
2	chr19:44617932..44619858-chr19:44621419..44624363,2	K562	blood:
3	chr19:44619756..44622526-chr19:44648791..44651550,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186019	TF binding region
ENSG00000256294	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143706419	chr19:44621752-44621753	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs554655130	chr19:44621774-44621775	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574907802	chr19:44621814-44621815	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537127429	chr19:44621820-44621821	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527513826	chr19:44621831-44621832	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34586882	chr19:44621858-44621859	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112029417	chr19:44621941-44621942	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111291957	chr19:44621959-44621960	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs564792432	chr19:44622046-44622047	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs140993162	chr19:44622077-44622078	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534464017	chr19:44622096-44622097	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560707233	chr19:44622103-44622104	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112782078	chr19:44622146-44622147	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549585949	chr19:44622186-44622187	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373317978	chr19:44622213-44622214	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532714682	chr19:44622233-44622234	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182529239	chr19:44622263-44622264	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs115124536	chr19:44622288-44622289	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185929255	chr19:44622290-44622291	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374196454	chr19:44622303-44622304	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552879055	chr19:44622312-44622313	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377676634	chr19:44622314-44622315	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548588769	chr19:44622317-44622318	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs199991881	chr19:44622329-44622330	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs568335959	chr19:44622330-44622331	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs202046565	chr19:44622348-44622349	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374098472	chr19:44622352-44622353	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376939625	chr19:44622394-44622395	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147545000	chr19:44622413-44622414	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569516660	chr19:44622421-44622422	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373559946	chr19:44622439-44622440	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs62640901	chr19:44622458-44622459	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558322207	chr19:44622548-44622549	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370346059	chr19:44622607-44622608	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373963033	chr19:44622627-44622628	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191225974	chr19:44622629-44622630	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540946151	chr19:44622633-44622634	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34863330	chr19:44622641-44622642	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs114271963	chr19:44622642-44622643	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76696522	chr19:44622680-44622681	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563327487	chr19:44622698-44622699	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	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
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	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
Breast cancer	22522925	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44618200-44624400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:44618200-44635000	Weak transcription	Stomach Mucosa	stomach
3	chr19:44618400-44621800	Weak transcription	Fetal Intestine Small	intestine
4	chr19:44618400-44622000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:44618400-44629200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:44618600-44622000	Weak transcription	K562	blood
7	chr19:44618600-44622200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr19:44618600-44622200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr19:44618600-44622200	Weak transcription	Hela-S3	cervix
10	chr19:44618600-44622400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:44618600-44622600	Weak transcription	Esophagus	oesophagus
12	chr19:44618600-44623000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:44618600-44623400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr19:44618600-44623400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr19:44618600-44631400	Weak transcription	NHEK	skin
16	chr19:44618600-44635000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:44618800-44622000	Weak transcription	NHLF	lung
18	chr19:44618800-44622200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr19:44618800-44622200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:44618800-44622200	Weak transcription	Small Intestine	intestine
21	chr19:44618800-44622400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:44618800-44622400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:44618800-44622400	Weak transcription	HepG2	liver
24	chr19:44618800-44622600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:44618800-44623200	Weak transcription	GM12878-XiMat	blood
26	chr19:44618800-44623400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:44618800-44623600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:44618800-44635000	Weak transcription	HMEC	breast
29	chr19:44619000-44622200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:44619000-44622200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:44619000-44623400	Weak transcription	Fetal Heart	heart
32	chr19:44619000-44633600	Weak transcription	HUVEC	blood vessel
33	chr19:44619400-44622600	Strong transcription	Primary hematopoietic stem cells	blood
34	chr19:44619600-44623800	Strong transcription	A549	lung
35	chr19:44619600-44624800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr19:44619600-44624800	Strong transcription	Brain Angular Gyrus	brain
37	chr19:44619600-44625600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:44619600-44625800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:44619600-44626000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr19:44619600-44626200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:44619600-44627200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr19:44619600-44629200	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr19:44619600-44630400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:44619600-44633200	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr19:44619600-44637200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr19:44619600-44638600	ZNF genes & repeats	Liver	Liver
47	chr19:44619800-44622800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:44619800-44623400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr19:44619800-44623400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:44619800-44624000	Strong transcription	Primary monocytes fromperipheralblood	blood

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