Variant report

Variant	esv1731168
Chromosome Location	chr19:18546029-18546030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18388462..18393408-chr19:18545945..18551144,14	K562	blood:
2	chr19:18388807..18393519-chr19:18545945..18551144,10	K562	blood:
3	chr19:18269587..18272195-chr19:18544788..18547771,3	K562	blood:
4	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:

Variant related genes	Relation type
ENSG00000264175	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000105647	chromatin interactions
ENSG00000267959	chromatin interactions
ENSG00000130513	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200158039	chr19:18546029-18546030	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs35926638	chr19:18546030-18546031	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18532800-18547600	Weak transcription	HepG2	liver
2	chr19:18538000-18547600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:18538000-18548400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:18541000-18547800	Weak transcription	HSMMtube	muscle
5	chr19:18541600-18546800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr19:18541600-18548000	Weak transcription	Stomach Mucosa	stomach
7	chr19:18542600-18548000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:18543400-18546200	Enhancers	Fetal Brain Male	brain
9	chr19:18544000-18546400	Weak transcription	Dnd41	blood
10	chr19:18544200-18546200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:18544200-18547000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr19:18544200-18547200	Weak transcription	Primary T cells from cord blood	blood
13	chr19:18544200-18547400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr19:18544200-18547400	Weak transcription	NHDF-Ad	bronchial
15	chr19:18544200-18547800	Weak transcription	Fetal Kidney	kidney
16	chr19:18544400-18546400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr19:18544400-18546400	Weak transcription	Gastric	stomach
18	chr19:18544400-18546600	Weak transcription	Liver	Liver
19	chr19:18544400-18546600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr19:18544400-18547000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr19:18544400-18547000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr19:18544400-18547000	Weak transcription	Adipose Nuclei	Adipose
23	chr19:18544400-18547000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:18544400-18547400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:18544400-18547400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr19:18544400-18547600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr19:18544400-18547600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr19:18544400-18547600	Weak transcription	HSMM	muscle
29	chr19:18544400-18547600	Strong transcription	NHLF	lung
30	chr19:18544400-18547800	Weak transcription	Brain Angular Gyrus	brain
31	chr19:18544400-18548600	Weak transcription	Brain Substantia Nigra	brain
32	chr19:18544800-18547000	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr19:18544800-18547400	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr19:18544800-18547400	Genic enhancers	Placenta	Placenta
35	chr19:18544800-18547400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr19:18545000-18546400	Weak transcription	HMEC	breast
37	chr19:18545000-18547200	ZNF genes & repeats	Fetal Intestine Large	intestine
38	chr19:18545000-18547200	Weak transcription	Thymus	Thymus
39	chr19:18545000-18547600	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr19:18545000-18547600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:18545000-18547800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr19:18545200-18546400	Weak transcription	Brain Hippocampus Middle	brain
43	chr19:18545200-18546400	Weak transcription	Osteobl	bone
44	chr19:18545200-18546600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:18545200-18546600	Weak transcription	Esophagus	oesophagus
46	chr19:18545200-18546800	Weak transcription	Primary B cells from cord blood	blood
47	chr19:18545200-18547000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:18545200-18547000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:18545200-18547000	Genic enhancers	Brain Germinal Matrix	brain
50	chr19:18545200-18547200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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