Variant report

Variant	esv3440626
Chromosome Location	chr19:41293397-41293943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41281956..41285668-chr19:41292155..41295404,3	K562	blood:
2	chr19:41280731..41296556-chr19:41299561..41307605,30	MCF-7	breast:
3	chr19:41291602..41294099-chr19:41304198..41305906,2	K562	blood:

Variant related genes	Relation type
ENSG00000269858	chromatin interactions
ENSG00000268797	chromatin interactions
ENSG00000261857	chromatin interactions
ENSG00000171570	chromatin interactions
ENSG00000167578	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556415244	chr19:41293450-41293451	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs575270236	chr19:41293487-41293488	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs546123364	chr19:41293497-41293498	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs564343955	chr19:41293504-41293505	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs35706651	chr19:41293522-41293523	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs377128244	chr19:41293523-41293524	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs573088338	chr19:41293524-41293525	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs386365563	chr19:41293528-41293529	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs2604893	chr19:41293543-41293544	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs551269811	chr19:41293642-41293643	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs530205546	chr19:41293650-41293651	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs548336578	chr19:41293727-41293728	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs563352611	chr19:41293729-41293730	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs547407254	chr19:41293737-41293738	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs530770518	chr19:41293746-41293747	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs552476631	chr19:41293783-41293784	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs139728925	chr19:41293793-41293794	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs56997006	chr19:41293892-41293893	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs570776584	chr19:41293933-41293934	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs373342138	chr19:41293943-41293944	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	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
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
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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41285000-41303800	Weak transcription	Small Intestine	intestine
2	chr19:41285000-41304000	Weak transcription	Psoas Muscle	Psoas
3	chr19:41285200-41295600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:41285200-41295600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr19:41285200-41298000	Weak transcription	Fetal Lung	lung
6	chr19:41285200-41303200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:41285200-41303400	Weak transcription	Pancreas	Pancrea
8	chr19:41285200-41303600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:41285200-41303800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr19:41285200-41304000	Weak transcription	HSMM	muscle
11	chr19:41285400-41293400	Weak transcription	Liver	Liver
12	chr19:41285400-41295600	Weak transcription	Right Ventricle	heart
13	chr19:41285400-41296800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:41285400-41297000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:41285400-41297400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:41285400-41297400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr19:41285400-41297600	Weak transcription	Stomach Mucosa	stomach
18	chr19:41285400-41297800	Weak transcription	NHDF-Ad	bronchial
19	chr19:41285400-41298000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:41285400-41302400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:41285400-41303400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:41285400-41303400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:41285400-41303400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr19:41285400-41303400	Weak transcription	Colon Smooth Muscle	Colon
25	chr19:41285400-41303400	Weak transcription	HMEC	breast
26	chr19:41285400-41303400	Weak transcription	Osteobl	bone
27	chr19:41285400-41303600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:41285400-41303600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:41285400-41303600	Weak transcription	NHEK	skin
30	chr19:41285400-41303800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr19:41285400-41303800	Weak transcription	NH-A	brain
32	chr19:41285400-41304000	Weak transcription	HSMMtube	muscle
33	chr19:41285800-41294200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:41286000-41297600	Strong transcription	Fetal Intestine Small	intestine
35	chr19:41286000-41299200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr19:41286000-41299400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr19:41286000-41300000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:41286000-41303600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:41286200-41294400	Strong transcription	Primary T cells from cord blood	blood
40	chr19:41286200-41303400	Weak transcription	K562	blood
41	chr19:41286200-41303800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr19:41286200-41304000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:41286400-41295600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr19:41286400-41303400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:41286400-41303400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr19:41286400-41303800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr19:41286600-41294000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr19:41286600-41296400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr19:41286600-41298400	Strong transcription	Spleen	Spleen
50	chr19:41286800-41297800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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