Variant report

Variant	esv2370712
Chromosome Location	chr19:37463253-37463683
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	chr19:37463680-37463830	NHDF-neo	bronchial:	n/a	n/a
2	GABPA	chr19:37463645-37464599	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37463031..37465781-chr19:37707432..37709239,2	MCF-7	breast:

Variant related genes	Relation type
ZNF568	TF binding region
ENSG00000188283	chromatin interactions
ENSG00000245680	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 57 )

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	rs151129693	chr19:37463302-37463303	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368617439	chr19:37463307-37463308	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543795864	chr19:37463314-37463315	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs565586166	chr19:37463339-37463340	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs1644644	chr19:37463351-37463352	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1644645	chr19:37463430-37463431	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs1667332	chr19:37463435-37463436	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs115753220	chr19:37463442-37463443	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs62113194	chr19:37463505-37463506	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs140809652	chr19:37463510-37463511	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs565964360	chr19:37463523-37463524	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs372219412	chr19:37463525-37463526	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs192826889	chr19:37463534-37463535	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs566954003	chr19:37463552-37463553	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs73041126	chr19:37463558-37463559	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs73621705	chr19:37463559-37463560	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs116130315	chr19:37463563-37463564	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs377367032	chr19:37463572-37463573	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs190383755	chr19:37463619-37463620	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373221102	chr19:37463648-37463649	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs553943029	chr19:37463649-37463650	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs1667333	chr19:37463678-37463679	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:57)

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
Pleomorphic liposarcoma	18784837	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
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37447800-37463400	Weak transcription	Left Ventricle	heart
2	chr19:37451600-37463400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:37455600-37463400	Weak transcription	Placenta	Placenta
4	chr19:37458000-37463400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:37458000-37463600	Weak transcription	Aorta	Aorta
6	chr19:37458000-37463600	Weak transcription	Gastric	stomach
7	chr19:37458000-37463600	Weak transcription	Ovary	ovary
8	chr19:37458000-37463600	Weak transcription	Spleen	Spleen
9	chr19:37458800-37463400	Weak transcription	HSMMtube	muscle
10	chr19:37459800-37463400	Weak transcription	Right Ventricle	heart
11	chr19:37460400-37463400	Weak transcription	Fetal Brain Female	brain
12	chr19:37460600-37463400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:37460600-37463400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr19:37461000-37463600	Weak transcription	Liver	Liver
15	chr19:37461400-37463400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:37463200-37463400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr19:37463200-37463400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr19:37463200-37463400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr19:37463200-37463400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr19:37463200-37463400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr19:37463200-37463400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:37463200-37463400	Active TSS	Brain Germinal Matrix	brain
23	chr19:37463200-37463400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr19:37463200-37463400	Enhancers	Brain Substantia Nigra	brain
25	chr19:37463200-37463400	Enhancers	Colon Smooth Muscle	Colon
26	chr19:37463200-37463400	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr19:37463200-37463400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr19:37463200-37463400	Enhancers	Fetal Brain Male	brain
29	chr19:37463200-37463400	Enhancers	Fetal Muscle Trunk	muscle
30	chr19:37463200-37463400	Enhancers	Fetal Muscle Leg	muscle
31	chr19:37463200-37463400	Enhancers	Fetal Stomach	stomach
32	chr19:37463200-37463400	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr19:37463200-37463400	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr19:37463200-37463400	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr19:37463200-37463400	Enhancers	Thymus	Thymus
36	chr19:37463200-37463600	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr19:37463200-37463600	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr19:37463200-37463600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr19:37463200-37463600	Enhancers	Duodenum Mucosa	Duodenum
40	chr19:37463200-37463600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
41	chr19:37463200-37464000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:37463200-37464000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:37463200-37464000	Flanking Active TSS	Dnd41	blood
44	chr19:37463200-37464200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:37463200-37464200	Active TSS	Colonic Mucosa	Colon
46	chr19:37463200-37464600	Active TSS	Brain Angular Gyrus	brain
47	chr19:37463200-37464600	Active TSS	Brain Anterior Caudate	brain
48	chr19:37463200-37464600	Active TSS	Brain Cingulate Gyrus	brain
49	chr19:37463200-37464600	Active TSS	Placenta Amnion	Placenta Amnion
50	chr19:37463200-37464600	Active TSS	NHEK	skin

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