Variant report

Variant	esv1553462
Chromosome Location	chr19:18647208-18647209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18646831..18648378-chr19:18653239..18655225,2	MCF-7	breast:
2	chr19:18643276..18646755-chr19:18646873..18650377,4	K562	blood:
3	chr19:18645533..18647527-chr19:18689802..18691747,2	K562	blood:

Variant related genes	Relation type
ENSG00000269191	chromatin interactions
ENSG00000105701	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 57 )

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	rs118113459	chr19:18647208-18647209	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs71336682	chr19:18647209-18647210	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18632800-18652200	Weak transcription	Fetal Heart	heart
2	chr19:18632800-18652800	Weak transcription	Stomach Mucosa	stomach
3	chr19:18632800-18654600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:18633000-18653400	Weak transcription	Psoas Muscle	Psoas
5	chr19:18633200-18653200	Weak transcription	Right Atrium	heart
6	chr19:18633800-18648600	Weak transcription	A549	lung
7	chr19:18633800-18652400	Weak transcription	Fetal Brain Male	brain
8	chr19:18633800-18652800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:18633800-18653400	Weak transcription	Fetal Kidney	kidney
10	chr19:18634000-18651800	Weak transcription	Hela-S3	cervix
11	chr19:18634000-18652200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr19:18637600-18648200	Weak transcription	K562	blood
13	chr19:18638600-18650800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:18640400-18652000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr19:18640400-18652200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:18641800-18652400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr19:18641800-18652800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr19:18641800-18653000	Strong transcription	Fetal Stomach	stomach
19	chr19:18642000-18648800	Strong transcription	Placenta	Placenta
20	chr19:18642000-18652000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr19:18642000-18652400	Strong transcription	Fetal Muscle Leg	muscle
22	chr19:18642000-18652600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:18642000-18652600	Strong transcription	Brain Hippocampus Middle	brain
24	chr19:18642000-18652800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:18642000-18652800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:18642000-18652800	Strong transcription	Fetal Intestine Small	intestine
27	chr19:18642200-18648000	Strong transcription	Liver	Liver
28	chr19:18642200-18649000	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr19:18642200-18650000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:18642200-18651800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr19:18642200-18652000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:18642200-18652200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:18642200-18652200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr19:18642200-18652200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr19:18642200-18652400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:18642200-18652400	Strong transcription	Gastric	stomach
37	chr19:18642200-18652400	Strong transcription	Thymus	Thymus
38	chr19:18642200-18652400	Strong transcription	NHLF	lung
39	chr19:18642200-18652600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr19:18642200-18652600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:18642200-18652600	Strong transcription	Primary T cells from cord blood	blood
42	chr19:18642200-18652600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:18642200-18652600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr19:18642200-18652600	Strong transcription	Esophagus	oesophagus
45	chr19:18642200-18652600	Strong transcription	Fetal Intestine Large	intestine
46	chr19:18642200-18652600	Strong transcription	Ovary	ovary
47	chr19:18642200-18652800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr19:18642200-18652800	Strong transcription	Fetal Thymus	thymus
49	chr19:18642200-18653000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr19:18642400-18650600	Weak transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links