Variant report

Variant	esv3450535
Chromosome Location	chr19:51900814-51905829
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51867731..51869852-chr19:51905407..51907689,2	K562	blood:
2	chr19:51896400..51903695-chr19:51903717..51912186,11	K562	blood:
3	chr19:51842083..51843641-chr19:51899857..51902542,2	MCF-7	breast:
4	chr19:51868935..51870620-chr19:51902283..51903914,2	MCF-7	breast:
5	chr19:51896400..51903695-chr19:51903717..51912186,11	K562	blood:
6	chr19:51897812..51899328-chr19:51901713..51903648,2	MCF-7	breast:
7	chr19:51901444..51901990-chr19:52164321..52164914,2	K562	blood:
8	chr19:51869222..51871840-chr19:51900203..51903169,2	MCF-7	breast:
9	chr19:51864453..51872845-chr19:51892428..51902096,29	K562	blood:
10	chr19:51873685..51875740-chr19:51902367..51904760,2	K562	blood:
11	chr19:51899936..51901714-chr19:51903662..51905445,2	MCF-7	breast:
12	chr19:51896327..51899206-chr19:51900445..51903528,4	K562	blood:
13	chr19:51896384..51897937-chr19:51904154..51907057,2	MCF-7	breast:
14	chr19:51902195..51904210-chr19:51905368..51907838,2	K562	blood:
15	chr19:51895771..51899587-chr19:51899591..51905302,6	K562	blood:
16	chr19:51897676..51900576-chr19:51905401..51907897,3	K562	blood:
17	chr19:51899936..51901714-chr19:51903662..51905445,2	MCF-7	breast:
18	chr19:51869456..51871261-chr19:51901310..51903020,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105374	chromatin interactions
ENSG00000268144	chromatin interactions
ENSG00000268889	chromatin interactions
ENSG00000160318	chromatin interactions
ENSG00000105379	chromatin interactions
ENSG00000186806	chromatin interactions
ENSG00000269403	chromatin interactions
ENSG00000268520	chromatin interactions

Extended variants
information (count: 237 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570418408	chr19:51900825-51900826	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs539591879	chr19:51900838-51900839	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs530116783	chr19:51900854-51900855	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs141122591	chr19:51900858-51900859	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs150268591	chr19:51900900-51900901	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs8110432	chr19:51900924-51900925	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577225873	chr19:51900956-51900957	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs545033710	chr19:51900984-51900985	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs563702173	chr19:51900985-51900986	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs117473731	chr19:51900996-51900997	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs375574526	chr19:51901006-51901007	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs543099850	chr19:51901027-51901028	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs188054947	chr19:51901041-51901042	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs528640914	chr19:51901053-51901054	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs192473652	chr19:51901063-51901064	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs571576362	chr19:51901101-51901102	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs73562128	chr19:51901119-51901120	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141726648	chr19:51901138-51901139	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs184649771	chr19:51901154-51901155	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs188969316	chr19:51901157-51901158	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs535900096	chr19:51901161-51901162	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs112062715	chr19:51901165-51901166	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs386810335	chr19:51901173-51901174	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs184729287	chr19:51901174-51901175	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs10421242	chr19:51901180-51901181	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189198378	chr19:51901241-51901242	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs544491045	chr19:51901260-51901261	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs142730115	chr19:51901275-51901276	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs529650214	chr19:51901305-51901306	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs542685472	chr19:51901324-51901325	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs549876165	chr19:51901331-51901332	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs181040409	chr19:51901350-51901351	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs528582223	chr19:51901391-51901392	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs372388118	chr19:51901405-51901406	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs201839221	chr19:51901428-51901429	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs199993162	chr19:51901429-51901430	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs2411320	chr19:51901439-51901440	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565142692	chr19:51901450-51901451	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs7257761	chr19:51901453-51901454	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551237686	chr19:51901457-51901458	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs185882469	chr19:51901667-51901668	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs189427678	chr19:51901687-51901688	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs56110970	chr19:51901690-51901691	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs566532115	chr19:51901694-51901695	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs58831648	chr19:51901710-51901711	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs397965773	chr19:51901720-51901721	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs533875804	chr19:51901806-51901807	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs181787385	chr19:51901816-51901817	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs376087843	chr19:51901828-51901829	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs118105265	chr19:51901830-51901831	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Adrenocortical carcinoma	18281524	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
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51898400-51903000	Weak transcription	Fetal Brain Male	brain
2	chr19:51898400-51904000	Weak transcription	Fetal Brain Female	brain
3	chr19:51898600-51901000	Weak transcription	HepG2	liver
4	chr19:51898600-51903200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:51898800-51903800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:51898800-51905400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:51899000-51901200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:51899000-51901800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr19:51899000-51903000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:51899000-51903000	Weak transcription	Fetal Thymus	thymus
11	chr19:51899000-51904200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr19:51899000-51904800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr19:51899000-51904800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr19:51899000-51904800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:51899000-51905000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:51899000-51905200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:51899000-51906600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:51899000-51911000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:51899400-51901000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:51899400-51903000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:51899400-51903800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr19:51899600-51901000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr19:51899600-51903600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr19:51899800-51901600	Enhancers	K562	blood
25	chr19:51899800-51902800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr19:51900600-51901200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:51900800-51902000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:51901000-51901200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:51901000-51901400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:51901000-51901600	Enhancers	HepG2	liver
31	chr19:51901200-51901400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr19:51901200-51901800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:51901800-51902400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr19:51902400-51903000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr19:51902800-51904600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr19:51903000-51903200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:51903000-51903200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr19:51903000-51903600	Enhancers	Fetal Brain Male	brain
39	chr19:51903000-51904400	Enhancers	Fetal Thymus	thymus
40	chr19:51903200-51903400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr19:51903600-51904400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr19:51903800-51904000	Enhancers	Primary hematopoietic stem cells	blood
43	chr19:51903800-51904400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr19:51904000-51904200	Enhancers	Fetal Brain Female	brain
45	chr19:51904200-51906600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr19:51904400-51905000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr19:51904400-51905000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr19:51904600-51905000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr19:51904800-51906200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:51904800-51907000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links