Variant report

Variant	esv3338745
Chromosome Location	chr19:38376812-38381510
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	chr19:38378406..38380093-chr19:38396646..38398156,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105738	chromatin interactions
ENSG00000171804	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575570551	chr19:38378425-38378426	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs545774446	chr19:38378426-38378427	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373105808	chr19:38378476-38378477	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs564531656	chr19:38378502-38378503	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs528496306	chr19:38378513-38378514	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs10422056	chr19:38378539-38378540	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186926332	chr19:38378548-38378549	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529871654	chr19:38378550-38378551	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs548454669	chr19:38378570-38378571	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs191725148	chr19:38378591-38378592	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs376637713	chr19:38378606-38378607	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs73623870	chr19:38378669-38378670	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546854586	chr19:38378683-38378684	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs201178399	chr19:38378706-38378707	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs551866856	chr19:38378756-38378757	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376310584	chr19:38378795-38378796	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs369489743	chr19:38378796-38378797	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs146594275	chr19:38378822-38378823	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs376570390	chr19:38378898-38378899	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs370624347	chr19:38378913-38378914	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs571399500	chr19:38378932-38378933	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs373713614	chr19:38379033-38379034	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs376861693	chr19:38379045-38379046	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371432204	chr19:38379055-38379056	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs183183108	chr19:38379067-38379068	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs372309972	chr19:38379092-38379093	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs375065529	chr19:38379096-38379097	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs568965526	chr19:38379192-38379193	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368098236	chr19:38379200-38379201	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs188055814	chr19:38379229-38379230	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs141440839	chr19:38379230-38379231	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs375105907	chr19:38379333-38379334	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs558181437	chr19:38379374-38379375	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs573152517	chr19:38379444-38379445	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs6508750	chr19:38379446-38379447	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs189704315	chr19:38379447-38379448	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs200964341	chr19:38379453-38379454	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs562211033	chr19:38379478-38379479	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs574228166	chr19:38379544-38379545	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs182325197	chr19:38379566-38379567	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs540559202	chr19:38379629-38379630	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs145179229	chr19:38379634-38379635	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs530749120	chr19:38379679-38379680	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs201635014	chr19:38379680-38379681	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs117923468	chr19:38379699-38379700	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs200605557	chr19:38379752-38379753	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs564224795	chr19:38379780-38379781	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs528086273	chr19:38379792-38379793	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs574494794	chr19:38379811-38379812	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs112833942	chr19:38379820-38379821	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38379200-38379600	Enhancers	Primary neutrophils fromperipheralblood	blood

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