Variant report

Variant	esv3393637
Chromosome Location	chr19:40285681-40286445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40283040..40287164-chr19:40335990..40338148,3	MCF-7	breast:
2	chr19:40276822..40278831-chr19:40283845..40285832,2	K562	blood:
3	chr19:40285779..40290617-chr19:40292504..40296139,5	K562	blood:
4	chr19:40285675..40287389-chr19:40329469..40332136,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105202	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149823663	chr19:40285685-40285686	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs537617331	chr19:40285698-40285699	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562680187	chr19:40285704-40285705	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144802605	chr19:40285712-40285713	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190869716	chr19:40285740-40285741	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577544469	chr19:40285754-40285755	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs538911620	chr19:40285769-40285770	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557909236	chr19:40285785-40285786	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573189084	chr19:40285818-40285819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540376634	chr19:40285847-40285848	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs62110562	chr19:40285898-40285899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183370467	chr19:40285908-40285909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544844595	chr19:40285986-40285987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563055382	chr19:40286028-40286029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs377614360	chr19:40286035-40286036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533495319	chr19:40286077-40286078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186894353	chr19:40286103-40286104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372778961	chr19:40286116-40286117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs377137797	chr19:40286126-40286127	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369084434	chr19:40286127-40286128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs373068110	chr19:40286130-40286131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113970178	chr19:40286154-40286155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376446131	chr19:40286182-40286183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs113137596	chr19:40286194-40286195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374409797	chr19:40286211-40286212	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370918865	chr19:40286217-40286218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374336601	chr19:40286223-40286224	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs35150190	chr19:40286227-40286228	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377750347	chr19:40286231-40286232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376157198	chr19:40286244-40286245	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371091271	chr19:40286246-40286247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113159657	chr19:40286258-40286259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111931485	chr19:40286272-40286273	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs57208439	chr19:40286283-40286284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112895182	chr19:40286290-40286291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs386809213	chr19:40286294-40286295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs367983389	chr19:40286296-40286297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371543373	chr19:40286298-40286299	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs386809214	chr19:40286302-40286303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs61400688	chr19:40286314-40286315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs374675132	chr19:40286315-40286316	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368555111	chr19:40286323-40286324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs372618924	chr19:40286324-40286325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111970921	chr19:40286330-40286331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs369487571	chr19:40286338-40286339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373659229	chr19:40286340-40286341	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs58437993	chr19:40286347-40286348	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377111498	chr19:40286351-40286352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369676318	chr19:40286355-40286356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372383775	chr19:40286358-40286359	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
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
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
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40284000-40286400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:40284200-40286400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr19:40284200-40286400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:40284200-40286400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr19:40284200-40286400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr19:40284200-40286600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr19:40284200-40286600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr19:40284200-40286600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:40284200-40286600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:40284200-40286800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr19:40284200-40287600	Enhancers	GM12878-XiMat	blood
12	chr19:40284200-40289000	Weak transcription	Psoas Muscle	Psoas
13	chr19:40284200-40296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:40285400-40285800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr19:40285400-40286000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:40285600-40285800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:40285600-40286000	Enhancers	Primary B cells from cord blood	blood
18	chr19:40285600-40286000	Enhancers	Primary B cells from peripheral blood	blood
19	chr19:40285600-40286000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr19:40285600-40286000	Enhancers	Dnd41	blood
21	chr19:40285800-40287200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr19:40286400-40286600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr19:40286400-40286800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr19:40286400-40287600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr19:40286400-40288000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr19:40286400-40288400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr19:40286400-40288600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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