Variant report

Variant	nsv977094
Chromosome Location	chr16:76824388-76827357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:159 , 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	rs533701827	chr16:76824418-76824419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192988433	chr16:76824436-76824437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547308579	chr16:76824460-76824461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567985703	chr16:76824477-76824478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536246581	chr16:76824480-76824481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546629866	chr16:76824556-76824557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60749279	chr16:76824655-76824656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs538380169	chr16:76824664-76824665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567199731	chr16:76824680-76824681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7201147	chr16:76824706-76824707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs555722535	chr16:76824720-76824721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575330762	chr16:76824747-76824748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371491342	chr16:76824835-76824836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559548070	chr16:76824871-76824872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537678763	chr16:76824885-76824886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183911279	chr16:76824886-76824887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574430956	chr16:76824904-76824905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542571804	chr16:76824925-76824926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74025143	chr16:76824936-76824937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575694815	chr16:76825024-76825025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187471146	chr16:76825050-76825051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545184310	chr16:76825056-76825057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375781752	chr16:76825065-76825066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565411080	chr16:76825067-76825068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538339958	chr16:76825080-76825081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191960421	chr16:76825098-76825099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141843647	chr16:76825106-76825107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150203013	chr16:76825124-76825125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530423134	chr16:76825151-76825152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546593314	chr16:76825158-76825159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566360324	chr16:76825178-76825179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78401808	chr16:76825181-76825182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528333822	chr16:76825191-76825192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112635022	chr16:76825229-76825230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138716404	chr16:76825235-76825236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568982395	chr16:76825255-76825256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114744432	chr16:76825258-76825259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554351625	chr16:76825282-76825283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574345093	chr16:76825316-76825317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs66521224	chr16:76825363-76825364	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372111108	chr16:76825374-76825375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143347792	chr16:76825408-76825409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545411430	chr16:76825409-76825410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578230448	chr16:76825437-76825438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371137652	chr16:76825446-76825447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56046613	chr16:76825471-76825472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147532856	chr16:76825491-76825492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561491761	chr16:76825498-76825499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530384887	chr16:76825514-76825515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540914162	chr16:76825571-76825572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Lung cancer	24585490	CNVD
Neuroblastoma	18923524	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76824200-76838800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:76825000-76825400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr16:76825000-76825400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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