Variant report

Variant	esv3334225
Chromosome Location	chr19:44654846-44655240
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	chr19:44654497..44656036-chr19:44666513..44669314,2	K562	blood:

Variant related genes	Relation type
ENSG00000167380	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189495774	chr19:44654847-44654848	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181544369	chr19:44654852-44654853	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527241690	chr19:44654861-44654862	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34740144	chr19:44654869-44654870	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557476329	chr19:44654880-44654881	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533163760	chr19:44654889-44654890	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4803686	chr19:44654899-44654900	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533549398	chr19:44654904-44654905	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552397725	chr19:44654955-44654956	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553858183	chr19:44655021-44655022	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537646926	chr19:44655029-44655030	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs13345535	chr19:44655047-44655048	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142152006	chr19:44655048-44655049	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111854113	chr19:44655060-44655061	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576820125	chr19:44655061-44655062	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12975993	chr19:44655082-44655083	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140355738	chr19:44655139-44655140	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186725300	chr19:44655144-44655145	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572433935	chr19:44655171-44655172	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs56994246	chr19:44655185-44655186	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs74445504	chr19:44655195-44655196	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs78921050	chr19:44655197-44655198	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541054362	chr19:44655214-44655215	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44646800-44656600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:44646800-44657800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:44646800-44660200	Weak transcription	Stomach Mucosa	stomach
4	chr19:44647000-44655600	Weak transcription	HUVEC	blood vessel
5	chr19:44647000-44660200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:44647000-44660200	Weak transcription	Hela-S3	cervix
7	chr19:44647000-44660400	Weak transcription	Fetal Heart	heart
8	chr19:44647600-44655800	Weak transcription	Fetal Brain Male	brain
9	chr19:44647800-44668400	ZNF genes & repeats	Liver	Liver
10	chr19:44648200-44656400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr19:44648200-44657600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:44648200-44658200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:44648200-44660000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:44648400-44656000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr19:44648400-44656000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr19:44648400-44656000	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr19:44648400-44656400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:44648400-44657200	Strong transcription	Brain Germinal Matrix	brain
19	chr19:44648400-44658000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr19:44648400-44658800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:44648400-44658800	Strong transcription	Fetal Muscle Leg	muscle
22	chr19:44648400-44659400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:44648400-44660000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:44648400-44660000	Strong transcription	Placenta	Placenta
25	chr19:44648400-44660400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:44648400-44663200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr19:44648600-44655800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr19:44648600-44656200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr19:44648600-44656600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:44648600-44656800	Strong transcription	Brain Substantia Nigra	brain
31	chr19:44648600-44657200	Strong transcription	Thymus	Thymus
32	chr19:44648600-44658600	Strong transcription	Brain Anterior Caudate	brain
33	chr19:44648600-44658600	Strong transcription	Rectal Smooth Muscle	rectum
34	chr19:44648600-44658800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:44648600-44659000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr19:44648600-44659000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:44648600-44659000	Strong transcription	Dnd41	blood
38	chr19:44648600-44659400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr19:44648600-44659600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:44648600-44659800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr19:44648600-44660000	Strong transcription	Left Ventricle	heart
42	chr19:44648600-44660200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr19:44648600-44660200	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr19:44648600-44661800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr19:44648800-44658000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr19:44648800-44661200	Strong transcription	Fetal Intestine Large	intestine
47	chr19:44649000-44657000	Strong transcription	Fetal Brain Female	brain
48	chr19:44649400-44656200	Weak transcription	HMEC	breast
49	chr19:44649400-44657800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr19:44649600-44657000	Strong transcription	Fetal Stomach	stomach

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