Variant report

Variant	esv3345986
Chromosome Location	chr19:38028753-38029027
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	chr19:38027296..38029618-chr19:38032847..38035572,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187184189	chr19:38028760-38028761	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369737171	chr19:38028814-38028815	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76868510	chr19:38028816-38028817	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372339543	chr19:38028853-38028854	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554444390	chr19:38028854-38028855	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540520346	chr19:38028859-38028860	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149389958	chr19:38028865-38028866	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144727279	chr19:38028874-38028875	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs534546100	chr19:38028876-38028877	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544377578	chr19:38028882-38028883	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148457624	chr19:38028887-38028888	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12972657	chr19:38028907-38028908	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574193690	chr19:38028914-38028915	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560534069	chr19:38028915-38028916	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528015150	chr19:38028951-38028952	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376366048	chr19:38028963-38028964	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368875781	chr19:38028970-38028971	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538070272	chr19:38028974-38028975	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549929230	chr19:38028975-38028976	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376288863	chr19:38028980-38028981	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369363940	chr19:38028981-38028982	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549118812	chr19:38028983-38028984	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71177465	chr19:38028987-38028988	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191696655	chr19:38029007-38029008	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183843667	chr19:38029008-38029009	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372115588	chr19:38029010-38029011	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189009759	chr19:38029018-38029019	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12972887	chr19:38029019-38029020	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs533515247	chr19:38029022-38029023	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555640532	chr19:38029023-38029024	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372744419	chr19:38029024-38029025	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Pleomorphic liposarcoma	18784837	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
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Cystinuria	21255007	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37999000-38028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:38002000-38028800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr19:38017400-38028800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:38021600-38028800	ZNF genes & repeats	Primary T cells from cord blood	blood
5	chr19:38021600-38030200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr19:38021800-38028800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr19:38021800-38028800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:38021800-38028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:38021800-38028800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:38021800-38028800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:38021800-38029800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:38021800-38030000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:38021800-38030800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr19:38021800-38031600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:38022000-38028800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
16	chr19:38022000-38030600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
17	chr19:38022200-38028800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
18	chr19:38022200-38028800	ZNF genes & repeats	Esophagus	oesophagus
19	chr19:38022200-38028800	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr19:38022200-38028800	ZNF genes & repeats	Left Ventricle	heart
21	chr19:38022200-38028800	ZNF genes & repeats	Spleen	Spleen
22	chr19:38022200-38029400	ZNF genes & repeats	Aorta	Aorta
23	chr19:38022200-38029600	ZNF genes & repeats	Ovary	ovary
24	chr19:38022200-38030200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:38022200-38037000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr19:38022400-38028800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:38022400-38028800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:38022400-38028800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr19:38022400-38028800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr19:38022400-38028800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
31	chr19:38022400-38028800	ZNF genes & repeats	Liver	Liver
32	chr19:38022400-38028800	ZNF genes & repeats	Fetal Lung	lung
33	chr19:38022400-38028800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
34	chr19:38022400-38029600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:38022400-38032800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr19:38022600-38028800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
37	chr19:38023200-38028800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:38023200-38028800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
39	chr19:38023400-38028800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr19:38023400-38029800	ZNF genes & repeats	Fetal Brain Female	brain
41	chr19:38023600-38029000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
42	chr19:38024000-38028800	ZNF genes & repeats	Brain Hippocampus Middle	brain
43	chr19:38024000-38028800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
44	chr19:38024200-38028800	ZNF genes & repeats	Psoas Muscle	Psoas
45	chr19:38024600-38029800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
46	chr19:38025200-38029200	ZNF genes & repeats	Fetal Intestine Large	intestine
47	chr19:38025600-38028800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr19:38025600-38028800	ZNF genes & repeats	Placenta	Placenta
49	chr19:38025600-38029000	ZNF genes & repeats	Fetal Muscle Leg	muscle
50	chr19:38026200-38028800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links