Variant report

Variant	esv3449047
Chromosome Location	chr19:53315890-53320988
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	CEBPB	chr19:53319087-53319167	HepG2	liver:	n/a	chr19:53319119-53319130
2	MYC	chr19:53316188-53316245	Hela-S3	cervix:	n/a	n/a
3	NR2F2	chr19:53315495-53316027	K562	blood:	n/a	n/a
4	NR2F2	chr19:53315586-53315975	K562	blood:	n/a	n/a
5	POLR2A	chr19:53320122-53320175	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr19:53316578-53316894	K562	blood:	n/a	n/a
7	POLR2A	chr19:53316792-53316806	MCF-7	breast:	n/a	n/a
8	POLR2A	chr19:53316815-53316836	MCF-7	breast:	n/a	n/a
9	POLR2A	chr19:53316465-53316917	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:53320761-53321393	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:53317483-53317673	ProgFib	skin:	n/a	n/a
12	POLR2A	chr19:53317328-53317465	K562	blood:	n/a	n/a
13	POLR2A	chr19:53316009-53316213	MCF-7	breast:	n/a	n/a
14	POLR2A	chr19:53319262-53319450	ProgFib	skin:	n/a	n/a
15	POLR2A	chr19:53316535-53316878	K562	blood:	n/a	n/a
16	SRF	chr19:53319627-53319688	GM12878	blood:	n/a	n/a
17	TCF7L2	chr19:53317660-53317739	Hela-S3	cervix:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF468-3	chr19:53317537-53317679	NONHSAT067589

Variant related genes	Relation type
ZNF28	TF binding region

Extended variants
information (count: 249 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374581251	chr19:53315890-53315891	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs74176165	chr19:53315896-53315897	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs546657541	chr19:53315958-53315959	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs571192656	chr19:53315960-53315961	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs371471213	chr19:53315995-53315996	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs189290575	chr19:53316005-53316006	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs56944474	chr19:53316016-53316017	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs373676052	chr19:53316204-53316205	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs11879926	chr19:53316266-53316267	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs531975509	chr19:53316332-53316333	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs192673494	chr19:53316432-53316433	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113833929	chr19:53316441-53316442	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536106006	chr19:53316450-53316451	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71183837	chr19:53316522-53316523	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs73592007	chr19:53316527-53316528	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183514547	chr19:53316619-53316620	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs368676795	chr19:53316625-53316626	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs73592009	chr19:53316652-53316653	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553423173	chr19:53316653-53316654	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs577994845	chr19:53316663-53316664	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs148351994	chr19:53316665-53316666	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs557355183	chr19:53316730-53316731	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs576025560	chr19:53316807-53316808	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs543318418	chr19:53316808-53316809	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs531502861	chr19:53316813-53316814	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs561355775	chr19:53316846-53316847	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs573373378	chr19:53316904-53316905	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs189421648	chr19:53316995-53316996	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs114093200	chr19:53317000-53317001	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs10426358	chr19:53317001-53317002	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs79092076	chr19:53317017-53317018	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs181718463	chr19:53317037-53317038	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs73067558	chr19:53317049-53317050	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114158003	chr19:53317066-53317067	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs548450983	chr19:53317107-53317108	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs566590214	chr19:53317171-53317172	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs141561536	chr19:53317182-53317183	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs552042346	chr19:53317190-53317191	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs112820410	chr19:53317215-53317216	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs539103238	chr19:53317218-53317219	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs150909102	chr19:53317221-53317222	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs28760449	chr19:53317230-53317231	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536985082	chr19:53317231-53317232	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs527589439	chr19:53317281-53317282	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs73592011	chr19:53317337-53317338	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs112288210	chr19:53317352-53317353	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs117804155	chr19:53317355-53317356	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs565302314	chr19:53317366-53317367	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs115459740	chr19:53317372-53317373	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs7260398	chr19:53317395-53317396	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	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:277 , 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	chr19:53306000-53324000	Weak transcription	Colon Smooth Muscle	Colon
3	chr19:53306600-53324000	Weak transcription	Psoas Muscle	Psoas
4	chr19:53308000-53319600	Weak transcription	HUVEC	blood vessel
5	chr19:53308200-53319200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:53308200-53320200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:53308200-53324000	Weak transcription	Fetal Kidney	kidney
8	chr19:53311000-53323600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:53311200-53320200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr19:53311400-53317600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:53311400-53323600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:53311400-53324000	Weak transcription	NHDF-Ad	bronchial
13	chr19:53311600-53317600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:53313400-53320800	Weak transcription	Brain Hippocampus Middle	brain
15	chr19:53313600-53324000	Weak transcription	Fetal Lung	lung
16	chr19:53313600-53324000	Weak transcription	Right Ventricle	heart
17	chr19:53313600-53324200	Weak transcription	Brain Substantia Nigra	brain
18	chr19:53313800-53316600	Weak transcription	Primary T cells from cord blood	blood
19	chr19:53313800-53317000	Weak transcription	Placenta	Placenta
20	chr19:53313800-53317000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr19:53313800-53317200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:53313800-53317200	Weak transcription	Left Ventricle	heart
23	chr19:53313800-53317200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr19:53313800-53317400	Weak transcription	Gastric	stomach
25	chr19:53313800-53317400	Weak transcription	Ovary	ovary
26	chr19:53313800-53317400	Weak transcription	Spleen	Spleen
27	chr19:53313800-53318000	Weak transcription	Osteobl	bone
28	chr19:53313800-53318400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr19:53313800-53320200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:53313800-53320200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:53313800-53321000	Weak transcription	NH-A	brain
32	chr19:53313800-53323600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr19:53313800-53323800	Weak transcription	Stomach Mucosa	stomach
34	chr19:53313800-53324000	Weak transcription	Brain Angular Gyrus	brain
35	chr19:53313800-53324000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr19:53313800-53324000	Weak transcription	HSMM	muscle
37	chr19:53313800-53324000	Weak transcription	NHLF	lung
38	chr19:53313800-53324200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:53314000-53316200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:53314000-53316200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr19:53314000-53316200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr19:53314000-53316200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr19:53314000-53316400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:53314000-53316400	Weak transcription	Primary B cells from cord blood	blood
45	chr19:53314000-53316400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr19:53314000-53316400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr19:53314000-53316400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr19:53314000-53316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:53314000-53316400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:53314000-53316400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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