Variant report

Variant	nsv138463
Chromosome Location	chr19:38626819-38628763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38622874..38625133-chr19:38628263..38630740,2	K562	blood:
2	chr19:38625391..38627747-chr19:38633636..38636533,2	MCF-7	breast:
3	chr19:38626756..38629308-chr19:38639108..38640952,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143706602	chr19:38626819-38626820	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141868379	chr19:38626821-38626822	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143944227	chr19:38626824-38626825	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564175747	chr19:38626844-38626845	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56146390	chr19:38626846-38626847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11673635	chr19:38626874-38626875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12984362	chr19:38626875-38626876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12983922	chr19:38626900-38626901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12984591	chr19:38626907-38626908	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558881170	chr19:38626926-38626927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73636738	chr19:38626963-38626964	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541754364	chr19:38626969-38626970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577033516	chr19:38626972-38626973	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541023385	chr19:38626981-38626982	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113664148	chr19:38627009-38627010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12984864	chr19:38627010-38627011	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541553977	chr19:38627019-38627020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188860404	chr19:38627101-38627102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180847185	chr19:38627103-38627104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552470177	chr19:38627118-38627119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577789665	chr19:38627126-38627127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2005055	chr19:38627138-38627139	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs372975975	chr19:38627148-38627149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377331673	chr19:38627168-38627169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568406628	chr19:38627169-38627170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143973352	chr19:38627179-38627180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2005054	chr19:38627200-38627201	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs2016074	chr19:38627238-38627239	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537264899	chr19:38627252-38627253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558420210	chr19:38627253-38627254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146415283	chr19:38627262-38627263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs754123	chr19:38627280-38627281	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs73934104	chr19:38627289-38627290	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574131312	chr19:38627296-38627297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541392362	chr19:38627353-38627354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140940135	chr19:38627367-38627368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76197847	chr19:38627368-38627369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111534188	chr19:38627425-38627426	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376788673	chr19:38627426-38627427	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149690210	chr19:38627465-38627466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11880776	chr19:38627466-38627467	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190303745	chr19:38627499-38627500	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182479769	chr19:38627512-38627513	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529319558	chr19:38627668-38627669	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550964379	chr19:38627747-38627748	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145377658	chr19:38627761-38627762	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149178851	chr19:38627776-38627777	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113202323	chr19:38627778-38627779	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551850189	chr19:38627785-38627786	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186610481	chr19:38627802-38627803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38591800-38642800	Weak transcription	Small Intestine	intestine
2	chr19:38600600-38652800	Weak transcription	NHDF-Ad	bronchial
3	chr19:38610800-38643600	Weak transcription	HepG2	liver
4	chr19:38611000-38652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:38611600-38634400	Weak transcription	Stomach Mucosa	stomach
6	chr19:38611600-38634800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:38611600-38634800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr19:38611600-38641400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:38611600-38653000	Weak transcription	HUVEC	blood vessel
10	chr19:38611800-38634600	Weak transcription	NH-A	brain
11	chr19:38611800-38642600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr19:38611800-38653000	Weak transcription	Fetal Kidney	kidney
13	chr19:38613400-38633600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:38613400-38634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr19:38613600-38634800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr19:38613800-38629800	Weak transcription	Liver	Liver
17	chr19:38613800-38630000	Weak transcription	Brain Hippocampus Middle	brain
18	chr19:38613800-38633000	Weak transcription	Brain Angular Gyrus	brain
19	chr19:38613800-38633000	Weak transcription	Brain Substantia Nigra	brain
20	chr19:38613800-38633400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:38613800-38635600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:38613800-38636600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:38613800-38639000	Weak transcription	Left Ventricle	heart
24	chr19:38613800-38641800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr19:38613800-38643200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr19:38613800-38652200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:38613800-38652600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:38614000-38630200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:38614000-38634800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:38616000-38652600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr19:38616200-38641600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr19:38616600-38642000	Weak transcription	Dnd41	blood
33	chr19:38617000-38652000	Strong transcription	Fetal Intestine Small	intestine
34	chr19:38618200-38651000	Strong transcription	Fetal Intestine Large	intestine
35	chr19:38619000-38630800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr19:38619600-38647800	Strong transcription	Fetal Stomach	stomach
37	chr19:38620800-38632600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:38621000-38627000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr19:38621000-38633800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr19:38621400-38629000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:38621600-38630400	Weak transcription	Ovary	ovary
42	chr19:38621600-38642800	Weak transcription	NHLF	lung
43	chr19:38621800-38634000	Weak transcription	Thymus	Thymus
44	chr19:38622000-38634600	Weak transcription	Brain Germinal Matrix	brain
45	chr19:38622200-38636800	Weak transcription	Brain Anterior Caudate	brain
46	chr19:38622400-38634000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:38622600-38630200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr19:38622600-38641800	Weak transcription	Aorta	Aorta
49	chr19:38622800-38630000	Weak transcription	Gastric	stomach
50	chr19:38622800-38634000	Weak transcription	Rectal Smooth Muscle	rectum

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