Variant report

Variant	esv3401695
Chromosome Location	chr16:79649956-79650791
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	chr16:79648799..79650815-chr16:79652781..79654409,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35556024	chr16:79649969-79649970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554582543	chr16:79649995-79649996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569709725	chr16:79650011-79650012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536998755	chr16:79650025-79650026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371567418	chr16:79650043-79650044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2348180	chr16:79650056-79650057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541635750	chr16:79650062-79650063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71398161	chr16:79650084-79650085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572141613	chr16:79650122-79650123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542736898	chr16:79650132-79650133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560913699	chr16:79650134-79650135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111427347	chr16:79650155-79650156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78020192	chr16:79650175-79650176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147917742	chr16:79650194-79650195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543790642	chr16:79650195-79650196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369098883	chr16:79650265-79650266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186181484	chr16:79650273-79650274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547603333	chr16:79650303-79650304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112838246	chr16:79650329-79650330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368448459	chr16:79650331-79650332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191427208	chr16:79650342-79650343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182154110	chr16:79650354-79650355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369543451	chr16:79650372-79650373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200581627	chr16:79650379-79650380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149462871	chr16:79650383-79650384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6145914	chr16:79650395-79650396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548277321	chr16:79650422-79650423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550746510	chr16:79650448-79650449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569770741	chr16:79650454-79650455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545714291	chr16:79650498-79650499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200529768	chr16:79650539-79650540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs66799546	chr16:79650554-79650555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377157195	chr16:79650556-79650557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377405519	chr16:79650558-79650559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1094312	chr16:79650560-79650561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12934981	chr16:79650562-79650563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12934983	chr16:79650564-79650565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12921238	chr16:79650570-79650571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537066834	chr16:79650582-79650583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114971339	chr16:79650597-79650598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571153505	chr16:79650639-79650640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534992915	chr16:79650648-79650649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs821219	chr16:79650673-79650674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190971383	chr16:79650689-79650690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536009410	chr16:79650717-79650718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554714854	chr16:79650759-79650760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576177173	chr16:79650769-79650770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543469558	chr16:79650776-79650777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564710134	chr16:79650788-79650789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79635600-79652400	Weak transcription	Spleen	Spleen
2	chr16:79636200-79653800	Weak transcription	Right Atrium	heart
3	chr16:79640800-79650800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr16:79642200-79651800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:79645000-79652400	Weak transcription	Fetal Muscle Leg	muscle
6	chr16:79645200-79652400	Weak transcription	Placenta	Placenta
7	chr16:79647200-79651200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:79647400-79652200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:79647400-79652200	Weak transcription	HSMMtube	muscle
10	chr16:79649000-79652200	Weak transcription	HMEC	breast
11	chr16:79650600-79653400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links