Variant report

Variant	esv3508047
Chromosome Location	chr19:53235597-53235885
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	BCL3	chr19:53235753-53236010	GM12878	blood:	n/a	n/a
2	PBX3	chr19:53235500-53235949	GM12878	blood:	n/a	n/a
3	RXRA	chr19:53235440-53235764	GM12878	blood:	n/a	n/a
4	SIX5	chr19:53235482-53235747	K562	blood:	n/a	n/a

Variant related genes	Relation type
ZNF611	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35595717	chr19:53235599-53235600	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs371277896	chr19:53235623-53235624	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs34545798	chr19:53235626-53235627	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs77345924	chr19:53235650-53235651	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs74176161	chr19:53235653-53235654	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs557461093	chr19:53235674-53235675	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs372669746	chr19:53235677-53235678	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs66730402	chr19:53235680-53235681	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs549423823	chr19:53235693-53235694	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs71358901	chr19:53235704-53235705	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs71358902	chr19:53235707-53235708	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs71304191	chr19:53235717-53235718	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs547358021	chr19:53235728-53235729	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs71361203	chr19:53235731-53235732	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs71361204	chr19:53235734-53235735	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs34729033	chr19:53235758-53235759	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs34907226	chr19:53235761-53235762	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs79594583	chr19:53235785-53235786	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs35108223	chr19:53235788-53235789	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs199817015	chr19:53235807-53235808	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs569397842	chr19:53235809-53235810	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs34190058	chr19:53235812-53235813	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs113991589	chr19:53235815-53235816	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs369190297	chr19:53235825-53235826	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs150000619	chr19:53235839-53235840	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs111698699	chr19:53235842-53235843	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs572517006	chr19:53235873-53235874	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs62117398	chr19:53235874-53235875	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53210400-53236600	Weak transcription	Psoas Muscle	Psoas
2	chr19:53210600-53237200	Weak transcription	NHDF-Ad	bronchial
3	chr19:53214800-53237200	Weak transcription	Stomach Mucosa	stomach
4	chr19:53215800-53237000	Weak transcription	Brain Angular Gyrus	brain
5	chr19:53216800-53236600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr19:53221000-53237400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:53225000-53236800	Weak transcription	Brain Hippocampus Middle	brain
8	chr19:53225200-53236600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr19:53225200-53237000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr19:53225200-53237200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:53225200-53237200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr19:53225400-53236600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr19:53225400-53237200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:53226200-53237200	Weak transcription	HUVEC	blood vessel
15	chr19:53226200-53237200	Weak transcription	Osteobl	bone
16	chr19:53226400-53237200	Weak transcription	HMEC	breast
17	chr19:53228000-53236400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:53228400-53237400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:53228800-53236600	Weak transcription	Fetal Heart	heart
20	chr19:53229000-53236800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:53229000-53237000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:53229000-53237200	Weak transcription	NH-A	brain
23	chr19:53229400-53236600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr19:53229400-53237200	Weak transcription	Aorta	Aorta
25	chr19:53229600-53236600	Weak transcription	Esophagus	oesophagus
26	chr19:53229600-53236600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr19:53229600-53236600	Weak transcription	K562	blood
28	chr19:53230200-53236200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:53231000-53236600	Weak transcription	Brain Substantia Nigra	brain
30	chr19:53231000-53237000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:53231000-53237400	Weak transcription	Colonic Mucosa	Colon
32	chr19:53231200-53236600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:53231200-53236600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:53231200-53237200	Weak transcription	NHLF	lung
35	chr19:53231200-53237400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr19:53231400-53236400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr19:53231400-53236600	Weak transcription	Fetal Thymus	thymus
38	chr19:53231400-53237200	Weak transcription	HSMMtube	muscle
39	chr19:53231600-53236200	Weak transcription	Fetal Intestine Large	intestine
40	chr19:53231600-53236600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:53231600-53236600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr19:53231600-53237200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:53231800-53236000	Weak transcription	Small Intestine	intestine
44	chr19:53231800-53236200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr19:53231800-53236200	Weak transcription	Brain Germinal Matrix	brain
46	chr19:53231800-53236400	Weak transcription	Primary T cells from cord blood	blood
47	chr19:53231800-53236600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr19:53231800-53236600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:53231800-53236600	Weak transcription	Fetal Lung	lung
50	chr19:53231800-53236600	Weak transcription	Lung	lung

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