Variant report

Variant	esv3410496
Chromosome Location	chr19:44302164-44302435
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	chr19:44302339-44302760	A549	lung:	n/a	n/a
2	CBX3	chr19:44302146-44302528	K562	blood:	n/a	n/a
3	MAX	chr19:44302284-44303531	HCT-116	colon:	n/a	n/a
4	MAZ	chr19:44302241-44302377	HepG2	liver:	n/a	n/a
5	MTA3	chr19:44302425-44302751	GM12878	blood:	n/a	n/a
6	MYC	chr19:44302185-44302273	MCF-7	breast:	n/a	n/a
7	NR2F2	chr19:44302233-44302515	K562	blood:	n/a	n/a
8	NR2F2	chr19:44302129-44302570	K562	blood:	n/a	n/a
9	POLR2A	chr19:44302306-44302335	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr19:44302142-44302368	MCF-7	breast:	n/a	n/a
11	POLR2A	chr19:44302062-44302745	MCF-7	breast:	n/a	n/a
12	SIX5	chr19:44302199-44302524	K562	blood:	n/a	n/a
13	ZNF143	chr19:44302309-44302385	K562	blood:	n/a	n/a
14	ZNF143	chr19:44302310-44302464	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZNF263	chr19:44301624-44303510	HEK293-T-REx	kidney:	n/a	chr19:44303227-44303248

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44301885..44304341-chr19:44304382..44306763,2	K562	blood:

Variant related genes	Relation type
ENSG00000268601	TF binding region
ENSG00000159871	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112210078	chr19:44302247-44302248	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs112453679	chr19:44302254-44302255	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs386809603	chr19:44302255-44302256	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs377292695	chr19:44302256-44302257	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560149776	chr19:44302257-44302258	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs797272	chr19:44302276-44302277	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116080481	chr19:44302295-44302296	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs5011658	chr19:44302311-44302312	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs377526512	chr19:44302328-44302329	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371018654	chr19:44302334-44302335	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs372302783	chr19:44302336-44302337	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375886332	chr19:44302337-44302338	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs373855828	chr19:44302339-44302340	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs376301189	chr19:44302342-44302343	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs71169287	chr19:44302343-44302344	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs5011657	chr19:44302344-44302345	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs113005425	chr19:44302369-44302370	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs349052	chr19:44302379-44302380	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs73556871	chr19:44302394-44302395	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs538471100	chr19:44302403-44302404	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs71298764	chr19:44302409-44302410	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs111436616	chr19:44302434-44302435	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Lung squamous cell carcinoma	22363434	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44289400-44302600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:44290000-44302400	Weak transcription	NHEK	skin
3	chr19:44290200-44302200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr19:44299600-44302200	Weak transcription	Brain Anterior Caudate	brain
5	chr19:44299600-44302400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr19:44301000-44302200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:44301400-44302200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr19:44301400-44302400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:44301400-44302400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:44301600-44302200	Weak transcription	Placenta	Placenta
11	chr19:44301600-44302200	ZNF genes & repeats	Lung	lung
12	chr19:44301800-44302200	Enhancers	K562	blood
13	chr19:44301800-44302400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:44301800-44302600	Enhancers	Esophagus	oesophagus
15	chr19:44302000-44302200	Enhancers	Brain Angular Gyrus	brain
16	chr19:44302000-44302400	Enhancers	Spleen	Spleen
17	chr19:44302000-44302600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr19:44302200-44302400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr19:44302200-44302400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr19:44302200-44302400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr19:44302200-44302400	Enhancers	Primary hematopoietic stem cells	blood
22	chr19:44302200-44302400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr19:44302200-44302400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:44302200-44302400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr19:44302200-44302400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:44302200-44302400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr19:44302200-44302400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:44302200-44302400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr19:44302200-44302400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:44302200-44302400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:44302200-44302400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:44302200-44302400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr19:44302200-44302400	Bivalent Enhancer	Stomach Mucosa	stomach
34	chr19:44302200-44302400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
35	chr19:44302200-44302400	Enhancers	HMEC	breast
36	chr19:44302200-44302400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
37	chr19:44302200-44302600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:44302200-44302600	Bivalent Enhancer	Primary B cells from cord blood	blood
39	chr19:44302200-44302600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr19:44302200-44302600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:44302200-44302600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr19:44302200-44302600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:44302200-44302600	Enhancers	Placenta	Placenta
44	chr19:44302200-44302600	Enhancers	Lung	lung
45	chr19:44302200-44302600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
46	chr19:44302200-44302800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr19:44302200-44303200	Flanking Active TSS	GM12878-XiMat	blood
48	chr19:44302200-44303400	Active TSS	Brain Angular Gyrus	brain
49	chr19:44302200-44303400	Active TSS	Brain Anterior Caudate	brain
50	chr19:44302400-44302600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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