Variant report

Variant	nsv527597
Chromosome Location	chr19:53267506-53278982
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 644 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11667063	chr19:53267506-53267507	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115608628	chr19:53267511-53267512	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541815745	chr19:53267540-53267541	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116146016	chr19:53267551-53267552	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145220856	chr19:53267565-53267566	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545835678	chr19:53267631-53267632	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79768689	chr19:53267635-53267636	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76330678	chr19:53267654-53267655	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78433259	chr19:53267688-53267689	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs8104772	chr19:53267708-53267709	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11350553	chr19:53267731-53267732	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113989587	chr19:53267770-53267771	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs8105857	chr19:53267799-53267800	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143295539	chr19:53267818-53267819	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530499947	chr19:53267819-53267820	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576842810	chr19:53267833-53267834	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115881763	chr19:53267847-53267848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562119395	chr19:53267853-53267854	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574165895	chr19:53267858-53267859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541223997	chr19:53267905-53267906	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367546196	chr19:53267913-53267914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191501677	chr19:53267940-53267941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544616805	chr19:53267945-53267946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182777534	chr19:53267972-53267973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114245070	chr19:53268011-53268012	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549259822	chr19:53268037-53268038	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560968388	chr19:53268043-53268044	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs575624977	chr19:53268059-53268060	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs546432235	chr19:53268069-53268070	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs566201520	chr19:53268074-53268075	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs549964731	chr19:53268188-53268189	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs553999982	chr19:53268214-53268215	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs114927671	chr19:53268252-53268253	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs187893303	chr19:53268310-53268311	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs539480895	chr19:53268314-53268315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs570061854	chr19:53268319-53268320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs189799347	chr19:53268359-53268360	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs113680212	chr19:53268376-53268377	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs538621917	chr19:53268462-53268463	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs183556955	chr19:53268475-53268476	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs574203946	chr19:53268494-53268495	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs148021753	chr19:53268538-53268539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs141033461	chr19:53268556-53268557	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs368750586	chr19:53268559-53268560	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs557706547	chr19:53268596-53268597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs577356138	chr19:53268658-53268659	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557204086	chr19:53268659-53268660	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371887174	chr19:53268676-53268677	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3029479	chr19:53268697-53268698	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187807242	chr19:53268724-53268725	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53262000-53268600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr19:53262000-53269000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr19:53262200-53268800	Weak transcription	Dnd41	blood
4	chr19:53263200-53267800	Enhancers	Placenta	Placenta
5	chr19:53263200-53268800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:53264600-53285200	ZNF genes & repeats	Liver	Liver
7	chr19:53265600-53272200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:53265600-53282400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr19:53267000-53269200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:53267000-53272600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:53267200-53271800	Weak transcription	Fetal Stomach	stomach
12	chr19:53267200-53273600	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr19:53267400-53268000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:53267400-53268400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:53267800-53268800	Weak transcription	Placenta	Placenta
16	chr19:53267800-53269400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:53267800-53272000	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr19:53268000-53268800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:53268000-53278000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr19:53268000-53278000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr19:53268000-53278000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:53268200-53268400	ZNF genes & repeats	Fetal Intestine Large	intestine
23	chr19:53268200-53269000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr19:53268200-53269200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:53268200-53269400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr19:53268200-53271400	Weak transcription	Fetal Thymus	thymus
27	chr19:53268200-53272400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr19:53268200-53274800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr19:53268200-53276000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
30	chr19:53268400-53268600	Weak transcription	Fetal Intestine Large	intestine
31	chr19:53268400-53269200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr19:53268400-53270200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:53268400-53272000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:53268400-53273400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:53268400-53278600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr19:53268400-53279200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:53268600-53269200	Weak transcription	K562	blood
38	chr19:53268600-53270000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr19:53268600-53270400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr19:53268600-53270400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
41	chr19:53268600-53271200	Strong transcription	Fetal Intestine Large	intestine
42	chr19:53268600-53271400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:53268600-53274800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr19:53268600-53275800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
45	chr19:53268800-53269000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
46	chr19:53268800-53269400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
47	chr19:53268800-53269600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:53268800-53269600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:53268800-53270000	ZNF genes & repeats	NHDF-Ad	bronchial
50	chr19:53268800-53270200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links