Variant report

Variant	nsv978836
Chromosome Location	chr19:51899668-51906513
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:26)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51897857..51900350-chr19:51919819..51922051,2	K562	blood:
2	chr19:51869222..51871840-chr19:51900203..51903169,2	MCF-7	breast:
3	chr19:51899936..51901714-chr19:51903662..51905445,2	MCF-7	breast:
4	chr19:51842083..51843641-chr19:51899857..51902542,2	MCF-7	breast:
5	chr19:51847346..51848930-chr19:51897301..51899895,2	K562	blood:
6	chr19:51897812..51899328-chr19:51901713..51903648,2	MCF-7	breast:
7	chr19:51864453..51872845-chr19:51892428..51902096,29	K562	blood:
8	chr19:51889722..51893942-chr19:51894149..51900029,8	K562	blood:
9	chr19:51896327..51899206-chr19:51900445..51903528,4	K562	blood:
10	chr19:51897676..51900576-chr19:51905401..51907897,3	K562	blood:
11	chr19:51896384..51897937-chr19:51904154..51907057,2	MCF-7	breast:
12	chr19:51869456..51871261-chr19:51901310..51903020,2	K562	blood:
13	chr19:51829447..51832200-chr19:51897791..51899840,5	K562	blood:
14	chr19:51873685..51875740-chr19:51902367..51904760,2	K562	blood:
15	chr19:51889349..51894566-chr19:51895156..51899826,6	K562	blood:
16	chr19:51867731..51869852-chr19:51905407..51907689,2	K562	blood:
17	chr19:51895771..51899587-chr19:51899591..51905302,6	K562	blood:
18	chr19:51897676..51900576-chr19:51905401..51907897,3	K562	blood:
19	chr19:51896400..51903695-chr19:51903717..51912186,11	K562	blood:
20	chr19:51902195..51904210-chr19:51905368..51907838,2	K562	blood:
21	chr19:51868935..51870620-chr19:51902283..51903914,2	MCF-7	breast:
22	chr19:51896400..51903695-chr19:51903717..51912186,11	K562	blood:
23	chr19:51899936..51901714-chr19:51903662..51905445,2	MCF-7	breast:
24	chr19:51840838..51845657-chr19:51892354..51900411,18	K562	blood:
25	chr19:51901444..51901990-chr19:52164321..52164914,2	K562	blood:
26	chr19:51867772..51875803-chr19:51892381..51899756,21	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGLON5-5	chr19:51906454-51906904	ENSG00000268889.1

No data

Variant related genes	Relation type
ENSG00000105370	chromatin interactions
ENSG00000142512	chromatin interactions
ENSG00000105374	chromatin interactions
ENSG00000105379	chromatin interactions
ENSG00000268520	chromatin interactions
ENSG00000186806	chromatin interactions
ENSG00000262874	chromatin interactions
ENSG00000160318	chromatin interactions
ENSG00000268889	chromatin interactions
ENSG00000268144	chromatin interactions
ENSG00000269403	chromatin interactions
ENSG00000267984	chromatin interactions
ENSG00000267905	chromatin interactions

Extended variants
information (count: 303 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375678523	chr19:51899673-51899674	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs113656161	chr19:51899717-51899718	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs17729239	chr19:51899747-51899748	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192527573	chr19:51899808-51899809	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs534990309	chr19:51899810-51899811	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs553300826	chr19:51899947-51899948	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs376679707	chr19:51899964-51899965	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs545846355	chr19:51900010-51900011	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs182560712	chr19:51900013-51900014	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs374850232	chr19:51900037-51900038	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs575322992	chr19:51900065-51900066	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs542425450	chr19:51900126-51900127	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs77584672	chr19:51900155-51900156	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs369177782	chr19:51900244-51900245	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs573119997	chr19:51900262-51900263	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs540521685	chr19:51900279-51900280	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs17802282	chr19:51900284-51900285	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs35908759	chr19:51900357-51900358	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs76156654	chr19:51900375-51900376	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs11394583	chr19:51900378-51900379	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs533339960	chr19:51900400-51900401	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs548633145	chr19:51900423-51900424	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs146822727	chr19:51900492-51900493	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs563596785	chr19:51900504-51900505	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs8107170	chr19:51900531-51900532	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549263480	chr19:51900594-51900595	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs556911156	chr19:51900631-51900632	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs144206138	chr19:51900639-51900640	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs534929421	chr19:51900640-51900641	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs546874217	chr19:51900643-51900644	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs571636710	chr19:51900671-51900672	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs112740521	chr19:51900693-51900694	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs550606961	chr19:51900715-51900716	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs73562127	chr19:51900723-51900724	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs114305205	chr19:51900739-51900740	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs575555362	chr19:51900748-51900749	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs113061289	chr19:51900780-51900781	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs543046874	chr19:51900800-51900801	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs570418408	chr19:51900825-51900826	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs539591879	chr19:51900838-51900839	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs530116783	chr19:51900854-51900855	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs141122591	chr19:51900858-51900859	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs150268591	chr19:51900900-51900901	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs8110432	chr19:51900924-51900925	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577225873	chr19:51900956-51900957	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs545033710	chr19:51900984-51900985	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs563702173	chr19:51900985-51900986	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs117473731	chr19:51900996-51900997	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs375574526	chr19:51901006-51901007	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs543099850	chr19:51901027-51901028	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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51897800-51899800	Flanking Active TSS	GM12878-XiMat	blood
2	chr19:51898200-51900800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:51898400-51903000	Weak transcription	Fetal Brain Male	brain
4	chr19:51898400-51904000	Weak transcription	Fetal Brain Female	brain
5	chr19:51898600-51899800	Flanking Active TSS	K562	blood
6	chr19:51898600-51901000	Weak transcription	HepG2	liver
7	chr19:51898600-51903200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:51898800-51900600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:51898800-51903800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:51898800-51905400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:51899000-51899800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:51899000-51900400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:51899000-51901200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:51899000-51901800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:51899000-51903000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:51899000-51903000	Weak transcription	Fetal Thymus	thymus
17	chr19:51899000-51904200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr19:51899000-51904800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr19:51899000-51904800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:51899000-51904800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:51899000-51905000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr19:51899000-51905200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:51899000-51906600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:51899000-51911000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:51899200-51899800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr19:51899400-51901000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:51899400-51903000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:51899400-51903800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr19:51899600-51901000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr19:51899600-51903600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr19:51899800-51900000	Enhancers	GM12878-XiMat	blood
32	chr19:51899800-51901600	Enhancers	K562	blood
33	chr19:51899800-51902800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr19:51900600-51900800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:51900600-51901200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:51900800-51902000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:51901000-51901200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:51901000-51901400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:51901000-51901600	Enhancers	HepG2	liver
40	chr19:51901200-51901400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr19:51901200-51901800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:51901800-51902400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr19:51902400-51903000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr19:51902800-51904600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr19:51903000-51903200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:51903000-51903200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr19:51903000-51903600	Enhancers	Fetal Brain Male	brain
48	chr19:51903000-51904400	Enhancers	Fetal Thymus	thymus
49	chr19:51903200-51903400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr19:51903600-51904400	Enhancers	Monocytes-CD14+_RO01746	blood

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