Variant report

Variant	esv3428348
Chromosome Location	chr16:76218751-76220649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575109865	chr16:76218754-76218755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540469634	chr16:76218794-76218795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560743136	chr16:76218801-76218802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532462884	chr16:76218821-76218822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3851744	chr16:76218850-76218851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562515777	chr16:76218876-76218877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531576004	chr16:76218916-76218917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548212941	chr16:76218917-76218918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567440064	chr16:76218952-76218953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530049077	chr16:76218957-76218958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371015790	chr16:76219025-76219026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192740385	chr16:76219026-76219027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566667894	chr16:76219042-76219043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538699967	chr16:76219066-76219067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558705743	chr16:76219079-76219080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568999873	chr16:76219092-76219093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537823430	chr16:76219094-76219095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575479691	chr16:76219123-76219124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9635568	chr16:76219148-76219149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs368071517	chr16:76219197-76219198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540933303	chr16:76219233-76219234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554041880	chr16:76219245-76219246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3851745	chr16:76219250-76219251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546016671	chr16:76219314-76219315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562627440	chr16:76219335-76219336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62051994	chr16:76219340-76219341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111241559	chr16:76219343-76219344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56869573	chr16:76219357-76219358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28558773	chr16:76219380-76219381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541816544	chr16:76219389-76219390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562115470	chr16:76219430-76219431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183592555	chr16:76219438-76219439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140758860	chr16:76219491-76219492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534270724	chr16:76219533-76219534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs68076168	chr16:76219551-76219552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58369242	chr16:76219562-76219563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3974503	chr16:76219570-76219571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28534071	chr16:76219572-76219573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71134749	chr16:76219573-76219574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536957524	chr16:76219588-76219589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566518319	chr16:76219589-76219590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199754413	chr16:76219590-76219591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188483307	chr16:76219605-76219606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552434219	chr16:76219660-76219661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568962967	chr16:76219694-76219695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537945290	chr16:76219701-76219702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4424938	chr16:76219743-76219744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145844339	chr16:76219749-76219750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117681674	chr16:76219759-76219760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62051995	chr16:76219765-76219766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76210400-76227600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links