Variant report

Variant	esv3361374
Chromosome Location	chr19:53312965-53315513
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	NR2F2	chr19:53315495-53316027	K562	blood:	n/a	n/a
2	POLR2A	chr19:53313310-53313692	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:53313093-53313228	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:53313118-53313169	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000255875	TF binding region
ZNF28	TF binding region

Extended variants
information (count: 127 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537142878	chr19:53312980-53312981	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561898040	chr19:53312985-53312986	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528989102	chr19:53313044-53313045	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74594473	chr19:53313055-53313056	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202197218	chr19:53313075-53313076	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537971733	chr19:53313078-53313079	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62119625	chr19:53313079-53313080	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527744584	chr19:53313088-53313089	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112288552	chr19:53313092-53313093	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62119626	chr19:53313093-53313094	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs139455024	chr19:53313099-53313100	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs552557593	chr19:53313119-53313120	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs570729248	chr19:53313122-53313123	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs538179337	chr19:53313131-53313132	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs556427442	chr19:53313144-53313145	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs369841382	chr19:53313151-53313152	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs112415446	chr19:53313166-53313167	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs370694307	chr19:53313169-53313170	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs550300791	chr19:53313170-53313171	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs139263815	chr19:53313203-53313204	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs111656858	chr19:53313213-53313214	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs553206299	chr19:53313276-53313277	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554029963	chr19:53313286-53313287	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191012282	chr19:53313296-53313297	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545549387	chr19:53313301-53313302	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557760105	chr19:53313306-53313307	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575931877	chr19:53313327-53313328	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs543779310	chr19:53313329-53313330	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs561960270	chr19:53313330-53313331	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs529152953	chr19:53313334-53313335	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs541239203	chr19:53313348-53313349	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs559250401	chr19:53313364-53313365	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs116001067	chr19:53313385-53313386	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs184002488	chr19:53313389-53313390	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs554009095	chr19:53313396-53313397	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs570862415	chr19:53313403-53313404	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs531590350	chr19:53313411-53313412	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs550109085	chr19:53313412-53313413	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs1974830	chr19:53313419-53313420	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs557799863	chr19:53313473-53313474	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs115478401	chr19:53313495-53313496	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs368451322	chr19:53313538-53313539	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs76826166	chr19:53313588-53313589	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs149745775	chr19:53313613-53313614	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs557557764	chr19:53313624-53313625	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs187831819	chr19:53313642-53313643	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs543444674	chr19:53313645-53313646	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs555363271	chr19:53313686-53313687	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs574000240	chr19:53313694-53313695	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540940121	chr19:53313698-53313699	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53296200-53324000	Weak transcription	Fetal Brain Male	brain
2	chr19:53297400-53314000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:53299200-53314000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:53299200-53314000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr19:53299200-53314000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr19:53299200-53314000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:53299600-53314000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:53299600-53314000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr19:53299800-53314000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr19:53301000-53314000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:53301400-53314000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr19:53302000-53314000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
13	chr19:53302800-53314000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
14	chr19:53302800-53314000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:53303000-53314000	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr19:53303200-53314000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:53303200-53314000	ZNF genes & repeats	Lung	lung
18	chr19:53303400-53314000	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr19:53303600-53314000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:53304200-53314000	ZNF genes & repeats	Aorta	Aorta
21	chr19:53304400-53315600	Weak transcription	Fetal Heart	heart
22	chr19:53305200-53314000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
23	chr19:53305400-53314000	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr19:53306000-53324000	Weak transcription	Colon Smooth Muscle	Colon
25	chr19:53306400-53314000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:53306400-53314000	ZNF genes & repeats	Esophagus	oesophagus
27	chr19:53306600-53313400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:53306600-53313800	Strong transcription	Placenta	Placenta
29	chr19:53306600-53314000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr19:53306600-53324000	Weak transcription	Psoas Muscle	Psoas
31	chr19:53307000-53314000	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr19:53307600-53313800	Strong transcription	Stomach Smooth Muscle	stomach
33	chr19:53308000-53313200	Strong transcription	Fetal Stomach	stomach
34	chr19:53308000-53313400	Weak transcription	Stomach Mucosa	stomach
35	chr19:53308000-53313400	Weak transcription	HSMM	muscle
36	chr19:53308000-53319600	Weak transcription	HUVEC	blood vessel
37	chr19:53308200-53314000	Strong transcription	Fetal Muscle Leg	muscle
38	chr19:53308200-53319200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:53308200-53320200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr19:53308200-53324000	Weak transcription	Fetal Kidney	kidney
41	chr19:53308600-53313600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:53308800-53313400	Weak transcription	Brain Substantia Nigra	brain
43	chr19:53308800-53313400	Weak transcription	Fetal Lung	lung
44	chr19:53309600-53313400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:53309800-53313200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr19:53310000-53313400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr19:53310000-53313400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:53310200-53313400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr19:53310200-53314000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
50	chr19:53310600-53314000	Strong transcription	Fetal Brain Female	brain

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