Variant report

Variant	esv3340166
Chromosome Location	chr19:18215101-18215332
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18213855..18215840-chr19:18226802..18229759,2	K562	blood:
2	chr19:18214257..18217360-chr19:18228399..18230348,3	MCF-7	breast:
3	chr19:18201667..18204008-chr19:18212882..18215554,2	MCF-7	breast:
4	chr19:18215138..18216766-chr19:18223836..18225347,2	MCF-7	breast:
5	chr19:18214304..18215890-chr19:18263415..18265130,2	K562	blood:
6	chr19:18207064..18208834-chr19:18213992..18216646,2	MCF-7	breast:
7	chr19:18208517..18210174-chr19:18213137..18216099,2	K562	blood:
8	chr19:18185895..18188337-chr19:18214059..18216560,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000099308	chromatin interactions
ENSG00000096996	chromatin interactions
ENSG00000105647	chromatin interactions
ENSG00000268173	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62121155	chr19:18215161-18215162	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180775335	chr19:18215179-18215180	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs556176440	chr19:18215189-18215190	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs273504	chr19:18215247-18215248	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs12978981	chr19:18215267-18215268	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs551737901	chr19:18215277-18215278	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs565029790	chr19:18215313-18215314	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs570790115	chr19:18215317-18215318	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18210000-18215400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:18210600-18215200	Weak transcription	Lung	lung
3	chr19:18210800-18215200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr19:18211800-18215200	Weak transcription	Gastric	stomach
5	chr19:18212400-18215200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:18212400-18215400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:18212600-18215200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:18213600-18216000	Enhancers	Fetal Brain Male	brain
9	chr19:18214200-18216000	Enhancers	Fetal Stomach	stomach
10	chr19:18214400-18216000	Enhancers	Spleen	Spleen
11	chr19:18214800-18215200	Flanking Active TSS	HepG2	liver
12	chr19:18214800-18215800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:18214800-18215800	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr19:18215000-18215200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:18215000-18215200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:18215000-18215200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:18215000-18215200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr19:18215000-18215200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr19:18215000-18215200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:18215000-18215200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:18215000-18215200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr19:18215000-18215200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:18215000-18215200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:18215000-18215200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:18215000-18215200	Active TSS	Brain Angular Gyrus	brain
26	chr19:18215000-18215200	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr19:18215000-18215200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr19:18215000-18215200	Active TSS	Esophagus	oesophagus
29	chr19:18215000-18215200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr19:18215000-18215200	Active TSS	Fetal Brain Female	brain
31	chr19:18215000-18215200	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr19:18215000-18215200	Flanking Active TSS	Fetal Lung	lung
33	chr19:18215000-18215200	Active TSS	Left Ventricle	heart
34	chr19:18215000-18215200	Active TSS	Pancreas	Pancrea
35	chr19:18215000-18215200	Active TSS	Placenta Amnion	Placenta Amnion
36	chr19:18215000-18215200	Bivalent/Poised TSS	Psoas Muscle	Psoas
37	chr19:18215000-18215200	Active TSS	Right Ventricle	heart
38	chr19:18215000-18215200	Flanking Active TSS	Small Intestine	intestine
39	chr19:18215000-18215200	Flanking Active TSS	Thymus	Thymus
40	chr19:18215000-18215200	Flanking Active TSS	Hela-S3	cervix
41	chr19:18215000-18215200	Flanking Active TSS	HSMMtube	muscle
42	chr19:18215000-18215200	Flanking Active TSS	NHEK	skin
43	chr19:18215000-18215400	Active TSS	H1 Cell Line	embryonic stem cell
44	chr19:18215000-18215400	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr19:18215000-18215400	Active TSS	Brain Germinal Matrix	brain
46	chr19:18215000-18215400	Active TSS	Brain Hippocampus Middle	brain
47	chr19:18215000-18215400	Flanking Active TSS	Dnd41	blood
48	chr19:18215000-18215400	Active TSS	HSMM	muscle
49	chr19:18215000-18215600	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr19:18215000-18215600	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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