Variant report

Variant	esv3373638
Chromosome Location	chr19:51314577-51315028
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51313105..51316231-chr19:51316664..51319784,4	MCF-7	breast:
2	chr19:51313579..51316389-chr19:51338633..51340698,2	MCF-7	breast:
3	chr12:120636894..120638425-chr19:51313714..51316049,2	K562	blood:
4	chr19:51314336..51315906-chr19:51320894..51322600,2	MCF-7	breast:
5	chr19:51314145..51316152-chr19:51321518..51323994,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC010325.1-1	chr19:51314514-51314584	XLOC_013119

No data

Variant related genes	Relation type
ENSG00000180279	chromatin interactions
ENSG00000174562	chromatin interactions
CAMK2D	miRNA target sites

Extended variants
information (count: 58 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368566928	chr19:51314595-51314596	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs532801098	chr19:51314659-51314660	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs189982837	chr19:51314664-51314665	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs571254898	chr19:51314665-51314666	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs17800513	chr19:51314692-51314693	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375671412	chr19:51314707-51314708	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs73586874	chr19:51314726-51314727	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs181439570	chr19:51314729-51314730	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs552507831	chr19:51314738-51314739	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371953512	chr19:51314739-51314740	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs386810266	chr19:51314742-51314743	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs147932687	chr19:51314743-51314744	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376613607	chr19:51314750-51314751	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs60339029	chr19:51314751-51314752	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs62115588	chr19:51314761-51314762	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376166522	chr19:51314768-51314769	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs386810267	chr19:51314780-51314781	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs55716780	chr19:51314791-51314792	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs62115592	chr19:51314795-51314796	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375887899	chr19:51314798-51314799	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372442878	chr19:51314799-51314800	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs377513429	chr19:51314800-51314801	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs370961578	chr19:51314803-51314804	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574066683	chr19:51314806-51314807	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs61286791	chr19:51314818-51314819	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs57187944	chr19:51314822-51314823	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs57162787	chr19:51314828-51314829	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs60052170	chr19:51314829-51314830	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs76521989	chr19:51314838-51314839	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs75362435	chr19:51314844-51314845	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs570766021	chr19:51314851-51314852	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs58909700	chr19:51314852-51314853	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs78951460	chr19:51314860-51314861	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs112371908	chr19:51314863-51314864	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs76510259	chr19:51314868-51314869	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs55836987	chr19:51314879-51314880	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538498140	chr19:51314895-51314896	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs56116686	chr19:51314898-51314899	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs58973253	chr19:51314904-51314905	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs58646004	chr19:51314909-51314910	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs59738773	chr19:51314917-51314918	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs373759690	chr19:51314936-51314937	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs60930623	chr19:51314939-51314940	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs376722099	chr19:51314941-51314942	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs113551173	chr19:51314942-51314943	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs370760676	chr19:51314943-51314944	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs556882569	chr19:51314947-51314948	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs78898214	chr19:51314951-51314952	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs60902224	chr19:51314952-51314953	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs112091145	chr19:51314965-51314966	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	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	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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No data

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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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