Variant report

Variant	nsv9687
Chromosome Location	chr19:23657767-23662360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542952666	chr19:23657774-23657775	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375337302	chr19:23657780-23657781	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139305986	chr19:23657784-23657785	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546632148	chr19:23657903-23657904	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190726183	chr19:23657915-23657916	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181497657	chr19:23657987-23657988	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572290984	chr19:23657995-23657996	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6511437	chr19:23658015-23658016	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569475665	chr19:23658026-23658027	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35360406	chr19:23658059-23658060	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386808090	chr19:23658061-23658062	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376094909	chr19:23658062-23658063	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567039152	chr19:23658063-23658064	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534189353	chr19:23658091-23658092	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558552541	chr19:23658098-23658099	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576781547	chr19:23658226-23658227	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186466550	chr19:23658230-23658231	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12974825	chr19:23658245-23658246	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12973216	chr19:23658272-23658273	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs371127258	chr19:23658281-23658282	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561703306	chr19:23658282-23658283	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73553192	chr19:23658313-23658314	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561101316	chr19:23658360-23658361	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540752182	chr19:23658361-23658362	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528395604	chr19:23658373-23658374	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190849590	chr19:23658512-23658513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73926646	chr19:23658527-23658528	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374190252	chr19:23658579-23658580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73928960	chr19:23658625-23658626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568837161	chr19:23658745-23658746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10422339	chr19:23658753-23658754	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs377136534	chr19:23658809-23658810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548514831	chr19:23658817-23658818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567027695	chr19:23658820-23658821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10423790	chr19:23658852-23658853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550624890	chr19:23658879-23658880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4115613	chr19:23658883-23658884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs10422376	chr19:23658885-23658886	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs183044137	chr19:23658941-23658942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574849487	chr19:23658945-23658946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535913464	chr19:23658977-23658978	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23656200-23659000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr19:23657600-23658400	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr19:23658400-23659000	Enhancers	Rectal Mucosa Donor 29	rectum

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