Variant report

Variant	esv3374307
Chromosome Location	chr19:53597540-53599538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:53592779..53599104-chr19:53601029..53609520,13	K562	blood:
2	chr19:53596128..53598162-chr19:53599456..53601173,2	MCF-7	breast:
3	chr19:53598253..53601018-chr19:53604672..53606722,3	MCF-7	breast:
4	chr19:53586275..53589046-chr19:53598456..53600578,2	K562	blood:
5	chr19:53596128..53598162-chr19:53599456..53601173,2	MCF-7	breast:
6	chr19:53592480..53599104-chr19:53600939..53607737,12	K562	blood:
7	chr19:53588688..53591621-chr19:53593968..53598410,4	K562	blood:

Variant related genes	Relation type
ENSG00000170949	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574573417	chr19:53597571-53597572	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138510590	chr19:53597578-53597579	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553153301	chr19:53597597-53597598	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527563399	chr19:53597598-53597599	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115778245	chr19:53597644-53597645	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564054132	chr19:53597663-53597664	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531360693	chr19:53597677-53597678	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183946597	chr19:53597697-53597698	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568101541	chr19:53597739-53597740	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528990733	chr19:53597749-53597750	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113286073	chr19:53597753-53597754	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548444112	chr19:53597758-53597759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73068970	chr19:53597790-53597791	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567078777	chr19:53597843-53597844	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs141550896	chr19:53597850-53597851	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558860017	chr19:53597858-53597859	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs570492691	chr19:53597865-53597866	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537897395	chr19:53597876-53597877	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs150725500	chr19:53597885-53597886	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574799828	chr19:53597903-53597904	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs8103960	chr19:53597904-53597905	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs141954064	chr19:53597936-53597937	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553650808	chr19:53597937-53597938	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370642549	chr19:53597941-53597942	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs8104069	chr19:53597965-53597966	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546097001	chr19:53597981-53597982	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548288854	chr19:53597987-53597988	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2162787	chr19:53598080-53598081	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs559262275	chr19:53598099-53598100	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs137973344	chr19:53598125-53598126	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531322745	chr19:53598145-53598146	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543400009	chr19:53598152-53598153	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs78091722	chr19:53598160-53598161	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs74489508	chr19:53598162-53598163	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561724394	chr19:53598179-53598180	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113243803	chr19:53598198-53598199	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528956167	chr19:53598205-53598206	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2059813	chr19:53598228-53598229	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528695236	chr19:53598233-53598234	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs10409828	chr19:53598265-53598266	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs527910921	chr19:53598280-53598281	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12981019	chr19:53598284-53598285	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552450119	chr19:53598295-53598296	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570852198	chr19:53598317-53598318	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12981470	chr19:53598350-53598351	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12981472	chr19:53598352-53598353	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2560952	chr19:53598357-53598358	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs12981480	chr19:53598361-53598362	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12981481	chr19:53598364-53598365	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12981258	chr19:53598374-53598375	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53573600-53604800	Weak transcription	Hela-S3	cervix
2	chr19:53574800-53599600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:53575600-53598600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:53575600-53601000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr19:53576800-53605200	Weak transcription	Stomach Mucosa	stomach
6	chr19:53580600-53597800	Weak transcription	Fetal Heart	heart
7	chr19:53584000-53599000	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr19:53584400-53598000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:53584600-53599400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:53584600-53599800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr19:53585200-53597800	Strong transcription	Placenta	Placenta
12	chr19:53585200-53599400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:53585200-53599600	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr19:53585400-53604800	Weak transcription	Psoas Muscle	Psoas
15	chr19:53585600-53598800	Strong transcription	HSMMtube	muscle
16	chr19:53585600-53599000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:53585600-53599200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:53585800-53597800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr19:53586000-53599000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:53586000-53599200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:53586000-53599600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr19:53586200-53598800	Strong transcription	Fetal Stomach	stomach
23	chr19:53586400-53599400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:53586400-53599800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr19:53586400-53603400	Strong transcription	Primary T cells from cord blood	blood
26	chr19:53586600-53599200	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr19:53586600-53599600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:53586600-53600000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:53586800-53599600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:53588200-53601200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr19:53588400-53603400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr19:53588600-53599800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:53589000-53598000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr19:53589200-53604800	Weak transcription	Fetal Brain Male	brain
35	chr19:53589600-53604800	Weak transcription	Small Intestine	intestine
36	chr19:53590200-53599600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr19:53590400-53605000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr19:53590600-53597600	Weak transcription	Right Atrium	heart
39	chr19:53590600-53599000	Strong transcription	Fetal Muscle Leg	muscle
40	chr19:53590800-53597600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:53591200-53597800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:53591200-53599600	Genic enhancers	Fetal Intestine Large	intestine
43	chr19:53591600-53598600	Genic enhancers	Fetal Intestine Small	intestine
44	chr19:53591800-53599200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:53592800-53604800	Weak transcription	HUVEC	blood vessel
46	chr19:53593400-53599600	ZNF genes & repeats	A549	lung
47	chr19:53593800-53597600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr19:53594000-53599000	Strong transcription	K562	blood
49	chr19:53594400-53597800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr19:53594400-53598000	Weak transcription	H9 Cell Line	embryonic stem cell

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