Variant report

Variant	esv3505010
Chromosome Location	chr19:37969321-37970154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65269953..65272188-chr19:37968874..37970374,2	K562	blood:
2	chr19:37957079..37959743-chr19:37967957..37970687,2	K562	blood:
3	chr19:37959263..37961865-chr19:37965726..37969534,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196437	chromatin interactions
ENSG00000171827	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554034063	chr19:37969356-37969357	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs75399491	chr19:37969429-37969430	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs377389679	chr19:37969461-37969462	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs571372269	chr19:37969483-37969484	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567057880	chr19:37969492-37969493	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150530338	chr19:37969517-37969518	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537566744	chr19:37969518-37969519	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549440325	chr19:37969537-37969538	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs569643542	chr19:37969555-37969556	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs547152859	chr19:37969560-37969561	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs190862088	chr19:37969662-37969663	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs538243490	chr19:37969683-37969684	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs12974525	chr19:37969696-37969697	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs118024343	chr19:37969741-37969742	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs536479374	chr19:37969763-37969764	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs182364710	chr19:37969774-37969775	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs139724242	chr19:37969829-37969830	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs543936477	chr19:37969835-37969836	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs564618913	chr19:37969956-37969957	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559192956	chr19:37970020-37970021	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs532509219	chr19:37970104-37970105	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37961000-37973000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37961000-37974000	Weak transcription	Stomach Mucosa	stomach
3	chr19:37961400-37970600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:37961400-37980400	ZNF genes & repeats	Liver	Liver
5	chr19:37962200-37976200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:37962200-37976400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr19:37962200-37977800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:37962200-37977800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:37962400-37977600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr19:37962400-37979200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:37963000-37970000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
12	chr19:37963200-37969400	ZNF genes & repeats	Fetal Brain Female	brain
13	chr19:37963200-37976600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
14	chr19:37963200-37981000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:37963800-37969800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
16	chr19:37963800-37976400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
17	chr19:37963800-37985600	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr19:37964000-37976400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
19	chr19:37964200-37977600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
20	chr19:37965800-37971600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:37966000-37969400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:37966200-37970000	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr19:37966200-37970400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr19:37966200-37970400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
25	chr19:37966200-37976400	ZNF genes & repeats	Primary T cells from cord blood	blood
26	chr19:37966200-37979200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
27	chr19:37966200-37984000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr19:37966400-37969800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:37966400-37969800	ZNF genes & repeats	Colon Smooth Muscle	Colon
30	chr19:37966400-37976800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr19:37966600-37969800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr19:37966600-37970000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr19:37966600-37976000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
34	chr19:37966600-37976200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
35	chr19:37966600-37977800	ZNF genes & repeats	Fetal Lung	lung
36	chr19:37966600-37977800	ZNF genes & repeats	Dnd41	blood
37	chr19:37966800-37970000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
38	chr19:37966800-37970000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:37966800-37970000	ZNF genes & repeats	Brain Substantia Nigra	brain
40	chr19:37966800-37970200	Strong transcription	NHDF-Ad	bronchial
41	chr19:37966800-37977600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:37967200-37969600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr19:37967200-37970000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr19:37967200-37970600	Strong transcription	Osteobl	bone
45	chr19:37967400-37969600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:37967400-37969800	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr19:37967400-37970000	Weak transcription	Fetal Heart	heart
48	chr19:37967400-37972600	Weak transcription	NH-A	brain
49	chr19:37967600-37969800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:37967800-37973000	Strong transcription	Muscle Satellite Cultured Cells	--

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