Variant report

Variant	esv3413007
Chromosome Location	chr19:19121625-19122306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19114772..19117742-chr19:19120327..19123930,5	K562	blood:
2	chr19:19119792..19122169-chr19:19218509..19220098,2	K562	blood:
3	chr19:19117833..19121009-chr19:19121012..19123889,3	K562	blood:

Variant related genes	Relation type
ENSG00000064607	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576596332	chr19:19121648-19121649	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539261132	chr19:19121651-19121652	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs139155858	chr19:19121652-19121653	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs71871126	chr19:19121655-19121656	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs28615799	chr19:19121656-19121657	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558582825	chr19:19121673-19121674	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184523116	chr19:19121681-19121682	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549972515	chr19:19121683-19121684	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188838800	chr19:19121719-19121720	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561108045	chr19:19121735-19121736	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574802398	chr19:19121752-19121753	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs150599019	chr19:19121753-19121754	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs181286952	chr19:19121863-19121864	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115980035	chr19:19121896-19121897	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs552807537	chr19:19121903-19121904	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560034719	chr19:19121921-19121922	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528178843	chr19:19121944-19121945	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548294080	chr19:19122003-19122004	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs186239411	chr19:19122004-19122005	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191086927	chr19:19122016-19122017	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs116348663	chr19:19122033-19122034	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530542598	chr19:19122034-19122035	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374227585	chr19:19122070-19122071	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112871667	chr19:19122101-19122102	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs180802406	chr19:19122115-19122116	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs539393507	chr19:19122156-19122157	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs17373432	chr19:19122158-19122159	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73006928	chr19:19122203-19122204	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187578964	chr19:19122204-19122205	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555070394	chr19:19122287-19122288	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Bladder cancer	21909424	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19100600-19122800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:19101000-19125600	Strong transcription	Thymus	Thymus
3	chr19:19101000-19133000	Strong transcription	Fetal Thymus	thymus
4	chr19:19101200-19126000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:19101200-19130400	Strong transcription	Duodenum Mucosa	Duodenum
6	chr19:19101200-19140200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr19:19101400-19130400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr19:19101400-19142000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr19:19101600-19130400	Strong transcription	Primary T cells from cord blood	blood
10	chr19:19101600-19130400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:19102000-19130200	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr19:19102000-19132000	Strong transcription	Dnd41	blood
13	chr19:19102600-19122600	Weak transcription	Fetal Heart	heart
14	chr19:19103200-19130200	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr19:19103600-19123600	Strong transcription	HepG2	liver
16	chr19:19106800-19143000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr19:19107200-19130200	Strong transcription	Brain Germinal Matrix	brain
18	chr19:19107200-19142600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:19107400-19125800	Strong transcription	Fetal Muscle Leg	muscle
20	chr19:19107600-19127200	Strong transcription	Fetal Intestine Large	intestine
21	chr19:19107600-19130200	Strong transcription	Brain Hippocampus Middle	brain
22	chr19:19107600-19142600	Strong transcription	Fetal Stomach	stomach
23	chr19:19107800-19130200	Strong transcription	Placenta	Placenta
24	chr19:19107800-19130400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:19107800-19130400	Strong transcription	Fetal Brain Female	brain
26	chr19:19108000-19142000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:19108000-19142800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr19:19108200-19130400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:19108200-19142600	Weak transcription	Right Atrium	heart
30	chr19:19108600-19130600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr19:19108600-19142200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr19:19108600-19142800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr19:19108800-19123800	Strong transcription	NHEK	skin
34	chr19:19108800-19127400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:19108800-19130400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr19:19109000-19130400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:19109000-19141800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr19:19109200-19121800	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr19:19109400-19130200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr19:19109400-19130200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:19109400-19142400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:19109800-19130200	Strong transcription	GM12878-XiMat	blood
43	chr19:19110200-19130400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr19:19110600-19122800	Strong transcription	Adipose Nuclei	Adipose
45	chr19:19110600-19130000	Strong transcription	Brain Cingulate Gyrus	brain
46	chr19:19110600-19142400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr19:19110800-19121800	Strong transcription	Lung	lung
48	chr19:19111000-19126000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr19:19111000-19130200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:19111000-19133600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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