Variant report

Variant	nsv579469
Chromosome Location	chr19:38337737-38343468
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	chr19:38209488..38211320-chr19:38336530..38338721,2	MCF-7	breast:
2	chr19:38322269..38323772-chr19:38341605..38343235,2	K562	blood:

Variant related genes	Relation type
ENSG00000198182	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8102579	chr19:38337737-38337738	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568532042	chr19:38337815-38337816	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs62110222	chr19:38337816-38337817	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146656708	chr19:38337827-38337828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539091036	chr19:38337881-38337882	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183875413	chr19:38337957-38337958	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs118052324	chr19:38338012-38338013	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576030260	chr19:38338017-38338018	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533949182	chr19:38338067-38338068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555304869	chr19:38338085-38338086	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188605879	chr19:38338100-38338101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs140728355	chr19:38338116-38338117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556077265	chr19:38338126-38338127	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577227625	chr19:38338128-38338129	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145863202	chr19:38338174-38338175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373911527	chr19:38338210-38338211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553472799	chr19:38338216-38338217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145398481	chr19:38338235-38338236	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543191139	chr19:38338278-38338279	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561364327	chr19:38338308-38338309	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs149145827	chr19:38338332-38338333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs576044945	chr19:38338358-38338359	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200860879	chr19:38338359-38338360	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558465765	chr19:38338370-38338371	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375341637	chr19:38338372-38338373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576603381	chr19:38338393-38338394	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114617023	chr19:38338463-38338464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112370791	chr19:38338599-38338600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565242017	chr19:38338650-38338651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532570052	chr19:38338652-38338653	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143235739	chr19:38338657-38338658	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148335596	chr19:38338658-38338659	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs143067407	chr19:38338661-38338662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs146984917	chr19:38338707-38338708	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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