Variant report

Variant	esv3440259
Chromosome Location	chr19:19388029-19388198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19386675..19389436-chr19:19391039..19392571,2	K562	blood:
2	chr19:19382597..19385606-chr19:19387254..19389947,3	K562	blood:

Variant related genes	Relation type
ENSG00000105705	chromatin interactions
ENSG00000267629	chromatin interactions
ENSG00000213996	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2074551	chr19:19388057-19388058	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533246817	chr19:19388058-19388059	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs200260377	chr19:19388060-19388061	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs12981966	chr19:19388063-19388064	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12981974	chr19:19388071-19388072	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs374237358	chr19:19388072-19388073	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs549382839	chr19:19388073-19388074	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs569403633	chr19:19388080-19388081	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs538541586	chr19:19388099-19388100	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs551995089	chr19:19388173-19388174	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Medulloblastoma	16783165	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

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19383800-19388400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:19384000-19388200	Weak transcription	HMEC	breast
3	chr19:19384400-19388400	Weak transcription	Psoas Muscle	Psoas
4	chr19:19384400-19391600	Weak transcription	Hela-S3	cervix
5	chr19:19384400-19392200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:19384400-19430600	Weak transcription	Right Atrium	heart
7	chr19:19384600-19388400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:19384600-19389000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:19384800-19390400	Weak transcription	Fetal Brain Male	brain
10	chr19:19384800-19394000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:19384800-19403200	Weak transcription	HUVEC	blood vessel
12	chr19:19385000-19388200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr19:19385200-19388800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:19385200-19389600	Strong transcription	Fetal Brain Female	brain
15	chr19:19385200-19396400	Weak transcription	NHDF-Ad	bronchial
16	chr19:19385200-19403400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:19385400-19391000	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr19:19385400-19393000	Strong transcription	Brain Germinal Matrix	brain
19	chr19:19385400-19409800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:19385400-19428400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:19385600-19391000	Strong transcription	Brain Angular Gyrus	brain
22	chr19:19385600-19391200	Strong transcription	Brain Anterior Caudate	brain
23	chr19:19385600-19392800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:19385600-19392800	Strong transcription	Brain Cingulate Gyrus	brain
25	chr19:19385600-19393400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:19385600-19395000	Strong transcription	Right Ventricle	heart
27	chr19:19385600-19396400	Strong transcription	Thymus	Thymus
28	chr19:19385600-19401200	Strong transcription	Primary T cells from cord blood	blood
29	chr19:19385600-19401600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:19385600-19403200	Strong transcription	Fetal Stomach	stomach
31	chr19:19385600-19403600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:19385600-19410000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr19:19385800-19388600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr19:19385800-19390600	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr19:19385800-19391200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:19385800-19392200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr19:19385800-19392600	Genic enhancers	Fetal Muscle Trunk	muscle
38	chr19:19385800-19395200	Strong transcription	Esophagus	oesophagus
39	chr19:19385800-19398200	Strong transcription	Left Ventricle	heart
40	chr19:19385800-19398600	Strong transcription	Brain Hippocampus Middle	brain
41	chr19:19385800-19399200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr19:19385800-19401200	Strong transcription	Adipose Nuclei	Adipose
43	chr19:19385800-19402200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:19385800-19402400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr19:19385800-19403200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:19385800-19409600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr19:19385800-19410000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr19:19386000-19389600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr19:19386000-19391000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:19386000-19392800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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