Variant report

Variant	nsv572998
Chromosome Location	chr16:76010598-76028931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 944 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:944 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6564298	chr16:76010598-76010599	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181007811	chr16:76010613-76010614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185683173	chr16:76010620-76010621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147319373	chr16:76010633-76010634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537741253	chr16:76010671-76010672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141066239	chr16:76010687-76010688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574077715	chr16:76010688-76010689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539805207	chr16:76010698-76010699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553851784	chr16:76010709-76010710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189951569	chr16:76010797-76010798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546387598	chr16:76010819-76010820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562929806	chr16:76010825-76010826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559746684	chr16:76010853-76010854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532090784	chr16:76010858-76010859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144813335	chr16:76010876-76010877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147498775	chr16:76010911-76010912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181672972	chr16:76010920-76010921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547447151	chr16:76010933-76010934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73620673	chr16:76010937-76010938	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186834443	chr16:76010949-76010950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552391332	chr16:76010950-76010951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568956626	chr16:76010976-76010977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537780177	chr16:76010994-76010995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111457839	chr16:76011002-76011003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139359764	chr16:76011016-76011017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76297590	chr16:76011024-76011025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553449101	chr16:76011028-76011029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372729790	chr16:76011075-76011076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576910721	chr16:76011079-76011080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76833811	chr16:76011121-76011122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs16943720	chr16:76011150-76011151	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs375600695	chr16:76011163-76011164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9935753	chr16:76011177-76011178	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs562389814	chr16:76011185-76011186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546046884	chr16:76011210-76011211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191674503	chr16:76011223-76011224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372327920	chr16:76011275-76011276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149684848	chr16:76011278-76011279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183071462	chr16:76011337-76011338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549989238	chr16:76011350-76011351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145531801	chr16:76011389-76011390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531420772	chr16:76011403-76011404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562321638	chr16:76011419-76011420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547932454	chr16:76011475-76011476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186426634	chr16:76011505-76011506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565159510	chr16:76011527-76011528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148818367	chr16:76011532-76011533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531044770	chr16:76011540-76011541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553776170	chr16:76011543-76011544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570330470	chr16:76011554-76011555	Enhancers 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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76008000-76011200	Weak transcription	Brain Angular Gyrus	brain
2	chr16:76009200-76011800	Enhancers	Brain Hippocampus Middle	brain
3	chr16:76009400-76011000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:76009800-76010800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:76009800-76017200	Weak transcription	Brain Anterior Caudate	brain
6	chr16:76010000-76011000	Weak transcription	Brain Substantia Nigra	brain
7	chr16:76010400-76011800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:76010800-76012000	Enhancers	Brain Cingulate Gyrus	brain
9	chr16:76011000-76011800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr16:76011000-76012000	Enhancers	Brain Substantia Nigra	brain
11	chr16:76011200-76011800	Enhancers	Brain Angular Gyrus	brain
12	chr16:76011800-76014000	Weak transcription	Brain Angular Gyrus	brain
13	chr16:76012000-76017000	Weak transcription	Brain Substantia Nigra	brain
14	chr16:76014600-76014800	Enhancers	Brain Germinal Matrix	brain
15	chr16:76014800-76015600	Weak transcription	Brain Germinal Matrix	brain
16	chr16:76015200-76019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:76015400-76017400	Weak transcription	Brain Angular Gyrus	brain
18	chr16:76015600-76018800	Enhancers	Brain Germinal Matrix	brain
19	chr16:76016200-76018400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr16:76016600-76016800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr16:76016600-76017600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr16:76016800-76017400	Enhancers	Fetal Brain Female	brain
23	chr16:76016800-76018200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:76016800-76018200	Enhancers	Brain Hippocampus Middle	brain
25	chr16:76017000-76017400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
26	chr16:76017000-76018000	Enhancers	Brain Substantia Nigra	brain
27	chr16:76017200-76017400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr16:76017200-76018000	Enhancers	Brain Anterior Caudate	brain
29	chr16:76017200-76018200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr16:76017200-76018400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr16:76017200-76018400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr16:76017400-76018000	Enhancers	Brain Angular Gyrus	brain
33	chr16:76017400-76018400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr16:76017400-76018400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr16:76017600-76017800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr16:76017600-76018000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr16:76017600-76018200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr16:76017800-76018000	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr16:76017800-76018200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr16:76017800-76018200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr16:76018000-76018200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr16:76018200-76018400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr16:76019600-76020000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:76020000-76029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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