Variant report

Variant	nsv521114
Chromosome Location	chr19:39068641-39075392
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	chr19:39070635..39073328-chr19:39076907..39078463,2	MCF-7	breast:
2	chr19:39062434..39064602-chr19:39069563..39071111,2	K562	blood:

Extended variants
information (count: 373 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1468571	chr19:39068641-39068642	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138156449	chr19:39068642-39068643	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375977113	chr19:39068651-39068652	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369132009	chr19:39068654-39068655	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373919284	chr19:39068667-39068668	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201157293	chr19:39068668-39068669	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146793368	chr19:39068670-39068671	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541627923	chr19:39068671-39068672	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200239964	chr19:39068705-39068706	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374286394	chr19:39068719-39068720	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376978923	chr19:39068731-39068732	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373682556	chr19:39068744-39068745	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370349890	chr19:39068755-39068756	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374065822	chr19:39068773-39068774	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368201693	chr19:39068774-39068775	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371953926	chr19:39068794-39068795	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201838999	chr19:39068796-39068797	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200002533	chr19:39068843-39068844	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200927402	chr19:39068844-39068845	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139464203	chr19:39068882-39068883	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372883965	chr19:39068889-39068890	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112526785	chr19:39068890-39068891	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550075371	chr19:39068900-39068901	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369244918	chr19:39068909-39068910	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144304405	chr19:39068920-39068921	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185727359	chr19:39068944-39068945	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575248342	chr19:39068946-39068947	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376384563	chr19:39069002-39069003	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565781648	chr19:39069007-39069008	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188183562	chr19:39069040-39069041	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113334338	chr19:39069070-39069071	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575582671	chr19:39069077-39069078	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536669204	chr19:39069101-39069102	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558791155	chr19:39069146-39069147	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373641300	chr19:39069168-39069169	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376967099	chr19:39069199-39069200	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145242633	chr19:39069210-39069211	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542678970	chr19:39069225-39069226	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61435613	chr19:39069230-39069231	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs373745178	chr19:39069242-39069243	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192241445	chr19:39069270-39069271	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143118956	chr19:39069330-39069331	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373531277	chr19:39069343-39069344	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552591953	chr19:39069366-39069367	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151230439	chr19:39069386-39069387	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532435858	chr19:39069391-39069392	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141452345	chr19:39069411-39069412	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565825229	chr19:39069451-39069452	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540266646	chr19:39069474-39069475	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547850669	chr19:39069504-39069505	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38985200-39081800	Weak transcription	Psoas Muscle	Psoas
2	chr19:39036000-39076400	Weak transcription	Brain Substantia Nigra	brain
3	chr19:39053200-39077800	Weak transcription	Brain Hippocampus Middle	brain
4	chr19:39053200-39086800	Weak transcription	Brain Angular Gyrus	brain
5	chr19:39053200-39086800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr19:39053400-39075400	Weak transcription	Brain Anterior Caudate	brain
7	chr19:39056400-39086400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:39056600-39070400	Weak transcription	Esophagus	oesophagus
9	chr19:39056800-39075400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr19:39056800-39077800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:39057200-39085200	Strong transcription	Fetal Muscle Leg	muscle
12	chr19:39057400-39076800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:39057800-39076600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:39058400-39081800	Weak transcription	Adipose Nuclei	Adipose
15	chr19:39059600-39070600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:39061800-39079000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr19:39062800-39072200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:39064000-39076600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr19:39064200-39086400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr19:39066400-39069200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
21	chr19:39066400-39069800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
22	chr19:39066800-39070800	Weak transcription	HSMMtube	muscle
23	chr19:39066800-39074200	Weak transcription	Spleen	Spleen
24	chr19:39067000-39072200	Weak transcription	Fetal Stomach	stomach
25	chr19:39067000-39075600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr19:39067000-39086600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:39068000-39069600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr19:39068000-39072600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr19:39068200-39079400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr19:39068400-39068800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:39068400-39068800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:39068400-39068800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:39068800-39070200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:39068800-39070400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:39069200-39070600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr19:39069200-39079800	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr19:39069400-39070800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr19:39069600-39069800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr19:39069600-39070400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr19:39069600-39070600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:39069600-39070600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:39069600-39070600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:39069600-39070800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr19:39069600-39071000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:39069600-39071400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:39069600-39071400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:39069600-39071600	Enhancers	HMEC	breast
48	chr19:39069800-39070400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr19:39069800-39070600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr19:39069800-39081800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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