Variant report

Variant	esv3324433
Chromosome Location	chr19:39233826-39234236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39227434..39229644-chr19:39233125..39236145,3	MCF-7	breast:
2	chr19:39233778..39236095-chr19:39340274..39342606,2	K562	blood:
3	chr19:39233163..39234762-chr19:39351749..39353348,2	K562	blood:
4	chr19:39227687..39231006-chr19:39233180..39235814,6	K562	blood:
5	chr19:39228306..39230279-chr19:39233041..39234658,2	MCF-7	breast:
6	chr19:39228662..39230704-chr19:39233193..39235780,3	K562	blood:

Variant related genes	Relation type
ENSG00000104824	chromatin interactions
ENSG00000267892	chromatin interactions
ENSG00000182472	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560735792	chr19:39233836-39233837	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs372122631	chr19:39233851-39233852	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs527992539	chr19:39233888-39233889	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs549557990	chr19:39233906-39233907	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs561570037	chr19:39233925-39233926	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs528571376	chr19:39233935-39233936	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs35134120	chr19:39233960-39233961	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs36125859	chr19:39233969-39233970	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs547949083	chr19:39233974-39233975	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs28489370	chr19:39233997-39233998	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs571536220	chr19:39234010-39234011	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs538615800	chr19:39234029-39234030	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs566992612	chr19:39234032-39234033	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs112434578	chr19:39234035-39234036	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs547409721	chr19:39234038-39234039	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs28539917	chr19:39234041-39234042	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs373571026	chr19:39234043-39234044	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs113699303	chr19:39234052-39234053	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs112958563	chr19:39234069-39234070	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs55677116	chr19:39234070-39234071	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs7507791	chr19:39234073-39234074	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs55715915	chr19:39234079-39234080	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs566383929	chr19:39234095-39234096	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs376459032	chr19:39234115-39234116	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs369889805	chr19:39234118-39234119	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs112720316	chr19:39234119-39234120	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs373342586	chr19:39234120-39234121	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs377462478	chr19:39234124-39234125	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs112789969	chr19:39234142-39234143	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs533846851	chr19:39234143-39234144	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs113963091	chr19:39234145-39234146	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs186252774	chr19:39234147-39234148	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs369458400	chr19:39234152-39234153	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs527778481	chr19:39234156-39234157	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs56044748	chr19:39234162-39234163	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs55806409	chr19:39234165-39234166	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs567501466	chr19:39234179-39234180	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs56163209	chr19:39234181-39234182	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs552579800	chr19:39234185-39234186	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs151226125	chr19:39234189-39234190	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs556187691	chr19:39234200-39234201	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs534869009	chr19:39234201-39234202	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs4802774	chr19:39234213-39234214	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs150298732	chr19:39234225-39234226	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs55763861	chr19:39234226-39234227	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs55864316	chr19:39234227-39234228	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs55838941	chr19:39234228-39234229	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs56652394	chr19:39234233-39234234	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39227400-39234600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:39228400-39234600	Weak transcription	Placenta	Placenta
3	chr19:39228600-39234400	Weak transcription	A549	lung
4	chr19:39230800-39234400	Weak transcription	K562	blood
5	chr19:39231000-39234400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:39231000-39234400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:39231000-39234600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:39232400-39234400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:39232600-39234200	Weak transcription	Spleen	Spleen
10	chr19:39233000-39235200	Enhancers	HepG2	liver
11	chr19:39233200-39236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:39234000-39235000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr19:39234200-39234600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:39234200-39234800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:39234200-39235400	Enhancers	Spleen	Spleen

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