Variant report

Variant	esv18342
Chromosome Location	chr19:42203836-42204831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42201439..42203685-chr19:42204589..42206522,2	MCF-7	breast:
2	chr19:42199149..42200978-chr19:42202401..42204371,2	K562	blood:
3	chr19:42199364..42201968-chr19:42204770..42207753,2	K562	blood:
4	chr19:42194707..42197200-chr19:42201363..42204085,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560796008	chr19:42203844-42203845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4239513	chr19:42203845-42203846	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190232740	chr19:42203863-42203864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538561435	chr19:42203876-42203877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144585039	chr19:42203894-42203895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77066001	chr19:42203895-42203896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75583507	chr19:42203924-42203925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140376470	chr19:42203963-42203964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3030872	chr19:42203991-42203992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60871162	chr19:42203996-42203997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199636675	chr19:42203997-42203998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200627563	chr19:42203999-42204000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376919737	chr19:42204001-42204002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80103401	chr19:42204002-42204003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571457356	chr19:42204004-42204005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76585549	chr19:42204083-42204084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571445701	chr19:42204098-42204099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554019660	chr19:42204104-42204105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs8112616	chr19:42204129-42204130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113475816	chr19:42204153-42204154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112564581	chr19:42204170-42204171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374056173	chr19:42204196-42204197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113319477	chr19:42204199-42204200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536178138	chr19:42204205-42204206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143905230	chr19:42204293-42204294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554772026	chr19:42204299-42204300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113362224	chr19:42204324-42204325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537288832	chr19:42204370-42204371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558675244	chr19:42204400-42204401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112309358	chr19:42204416-42204417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540972355	chr19:42204422-42204423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552714780	chr19:42204423-42204424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181290741	chr19:42204449-42204450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114947586	chr19:42204450-42204451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115395983	chr19:42204451-42204452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114629368	chr19:42204458-42204459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148361726	chr19:42204468-42204469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75411759	chr19:42204469-42204470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532503476	chr19:42204494-42204495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77338510	chr19:42204495-42204496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565956384	chr19:42204559-42204560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530142665	chr19:42204568-42204569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77963747	chr19:42204593-42204594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10401378	chr19:42204606-42204607	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs74407351	chr19:42204650-42204651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73047318	chr19:42204669-42204670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs74476494	chr19:42204678-42204679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370377179	chr19:42204679-42204680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534432625	chr19:42204716-42204717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112860809	chr19:42204741-42204742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42202000-42205000	Enhancers	Fetal Intestine Small	intestine
2	chr19:42202200-42204000	Enhancers	Fetal Intestine Large	intestine
3	chr19:42202200-42204800	Enhancers	Stomach Mucosa	stomach
4	chr19:42203000-42204000	Enhancers	Duodenum Mucosa	Duodenum
5	chr19:42203000-42206000	Enhancers	Pancreas	Pancrea
6	chr19:42203200-42204200	Enhancers	Gastric	stomach
7	chr19:42203200-42204600	Weak transcription	Hela-S3	cervix
8	chr19:42203400-42204000	Enhancers	Esophagus	oesophagus
9	chr19:42203400-42204200	Enhancers	A549	lung
10	chr19:42203600-42205200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr19:42203800-42205600	Enhancers	Colonic Mucosa	Colon
12	chr19:42203800-42210800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:42204200-42204600	Weak transcription	A549	lung
14	chr19:42204600-42204800	Enhancers	Esophagus	oesophagus
15	chr19:42204600-42205600	Enhancers	A549	lung
16	chr19:42204600-42206000	Enhancers	Hela-S3	cervix
17	chr19:42204800-42210800	Weak transcription	Esophagus	oesophagus

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