Variant report

Variant	nsv103709
Chromosome Location	chr16:81284204-81287916
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	chr16:81264245..81265836-chr16:81282203..81285157,2	K562	blood:

Extended variants
information (count: 173 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112218982	chr16:81284212-81284213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11646322	chr16:81284246-81284247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11641389	chr16:81284279-81284280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577034467	chr16:81284295-81284296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540979880	chr16:81284296-81284297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28661342	chr16:81284302-81284303	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529754361	chr16:81284315-81284316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145198998	chr16:81284316-81284317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544518631	chr16:81284319-81284320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563635128	chr16:81284350-81284351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189360347	chr16:81284378-81284379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180797294	chr16:81284405-81284406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149148322	chr16:81284430-81284431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532481735	chr16:81284476-81284477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547527490	chr16:81284478-81284479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187332976	chr16:81284480-81284481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533582475	chr16:81284510-81284511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111673149	chr16:81284547-81284548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151016894	chr16:81284553-81284554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377366951	chr16:81284574-81284575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113758556	chr16:81284587-81284588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116685674	chr16:81284667-81284668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559109900	chr16:81284676-81284677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567002888	chr16:81284712-81284713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34597577	chr16:81284718-81284719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576970637	chr16:81284755-81284756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111325226	chr16:81284759-81284760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114195790	chr16:81284774-81284775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574470814	chr16:81284800-81284801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541825141	chr16:81284825-81284826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529248705	chr16:81284863-81284864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563409456	chr16:81284889-81284890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533994703	chr16:81284996-81284997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7200763	chr16:81285019-81285020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs563932172	chr16:81285020-81285021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549435337	chr16:81285022-81285023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569292556	chr16:81285026-81285027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs118068071	chr16:81285107-81285108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558090494	chr16:81285112-81285113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140819875	chr16:81285119-81285120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565868991	chr16:81285126-81285127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530005606	chr16:81285161-81285162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548582686	chr16:81285180-81285181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570206099	chr16:81285251-81285252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539710250	chr16:81285291-81285292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145988502	chr16:81285314-81285315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559025976	chr16:81285369-81285370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146949793	chr16:81285440-81285441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571053157	chr16:81285441-81285442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190685114	chr16:81285443-81285444	Weak transcription Enhancers	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
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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81272600-81286400	Weak transcription	Right Atrium	heart
2	chr16:81273600-81299400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr16:81277800-81295800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:81282400-81284600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:81282600-81286000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:81284600-81324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:81285200-81286200	Enhancers	Fetal Intestine Large	intestine
8	chr16:81285400-81285600	Enhancers	Stomach Smooth Muscle	stomach
9	chr16:81285400-81286000	Enhancers	Fetal Heart	heart
10	chr16:81285600-81285800	Enhancers	Placenta	Placenta
11	chr16:81285600-81286400	Enhancers	Fetal Stomach	stomach
12	chr16:81285600-81286400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr16:81285800-81286200	Enhancers	Colon Smooth Muscle	Colon
14	chr16:81286000-81286600	Enhancers	Ovary	ovary
15	chr16:81286000-81287000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:81286400-81286600	Enhancers	Stomach Smooth Muscle	stomach
17	chr16:81286600-81297400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr16:81286600-81297600	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links