Variant report

Variant	esv12262
Chromosome Location	chr19:42186492-42191707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42190379..42192601-chr19:42208251..42211218,2	K562	blood:
2	chr19:42185660..42188707-chr19:42191136..42193889,3	K562	blood:
3	chr19:42185627..42187160-chr19:42190673..42192636,2	K562	blood:
4	chr19:42187020..42188703-chr19:42193918..42196262,2	K562	blood:

Variant related genes	Relation type
ENSG00000007306	chromatin interactions

Extended variants
information (count: 270 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571844162	chr19:42186497-42186498	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543103670	chr19:42186519-42186520	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181352422	chr19:42186525-42186526	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149191245	chr19:42186546-42186547	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571365868	chr19:42186580-42186581	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536314070	chr19:42186589-42186590	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34596329	chr19:42186601-42186602	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569846032	chr19:42186674-42186675	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs76089747	chr19:42186694-42186695	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs115133631	chr19:42186707-42186708	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73934070	chr19:42186714-42186715	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs369492322	chr19:42186733-42186734	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376260066	chr19:42186750-42186751	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs541322695	chr19:42186756-42186757	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553177319	chr19:42186758-42186759	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532545211	chr19:42186768-42186769	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143742907	chr19:42186776-42186777	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553828514	chr19:42186782-42186783	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542079025	chr19:42186785-42186786	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563349923	chr19:42186793-42186794	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185269605	chr19:42186859-42186860	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545469966	chr19:42186867-42186868	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35513254	chr19:42186905-42186906	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564115853	chr19:42186910-42186911	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372437294	chr19:42186942-42186943	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116149848	chr19:42186944-42186945	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548089885	chr19:42186968-42186969	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs566067900	chr19:42186969-42186970	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146812004	chr19:42186983-42186984	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs548423513	chr19:42187001-42187002	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs569808064	chr19:42187041-42187042	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537561825	chr19:42187052-42187053	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs73934071	chr19:42187076-42187077	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572293956	chr19:42187088-42187089	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs116688663	chr19:42187110-42187111	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534581850	chr19:42187122-42187123	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553287599	chr19:42187190-42187191	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574812274	chr19:42187193-42187194	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs140537136	chr19:42187227-42187228	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557232885	chr19:42187248-42187249	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs78252386	chr19:42187249-42187250	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs145622307	chr19:42187282-42187283	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563895786	chr19:42187284-42187285	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs1008577	chr19:42187294-42187295	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs532037516	chr19:42187299-42187300	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115212965	chr19:42187314-42187315	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189739774	chr19:42187320-42187321	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111592270	chr19:42187324-42187325	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs16975476	chr19:42187344-42187345	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs563544024	chr19:42187368-42187369	Enhancers Weak transcription	Chromatin interactive region	1 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
Schizophrenia	18511947	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42185800-42187800	Enhancers	Colonic Mucosa	Colon
2	chr19:42186400-42187200	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr19:42186400-42188400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr19:42187200-42188000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr19:42187800-42189600	Weak transcription	Colonic Mucosa	Colon
6	chr19:42188000-42192600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr19:42189000-42192200	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr19:42189600-42192200	Active TSS	Colonic Mucosa	Colon
9	chr19:42191000-42191600	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr19:42191000-42192000	Active TSS	Rectal Smooth Muscle	rectum
11	chr19:42191400-42192000	Active TSS	Esophagus	oesophagus
12	chr19:42191400-42193000	Enhancers	Pancreas	Pancrea

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