Variant report

Variant	nsv817739
Chromosome Location	chr16:76005912-76018855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 665 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:665 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4608363	chr16:76005912-76005913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541606568	chr16:76005921-76005922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186945036	chr16:76005946-76005947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11860073	chr16:76005955-76005956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562042433	chr16:76005956-76005957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545877715	chr16:76005977-76005978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562966521	chr16:76006002-76006003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570399602	chr16:76006004-76006005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71394252	chr16:76006041-76006042	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548462152	chr16:76006051-76006052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374213835	chr16:76006098-76006099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377291703	chr16:76006142-76006143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7193601	chr16:76006180-76006181	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112476902	chr16:76006254-76006255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371081483	chr16:76006266-76006267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114951084	chr16:76006333-76006334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550227980	chr16:76006337-76006338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570017798	chr16:76006348-76006349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538065175	chr16:76006374-76006375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554420640	chr16:76006388-76006389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569827089	chr16:76006394-76006395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574402101	chr16:76006406-76006407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116588873	chr16:76006407-76006408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553395267	chr16:76006411-76006412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576406360	chr16:76006426-76006427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142599305	chr16:76006464-76006465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146085222	chr16:76006467-76006468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576030655	chr16:76006509-76006510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113239410	chr16:76006529-76006530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555632379	chr16:76006549-76006550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374094493	chr16:76006562-76006563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572390304	chr16:76006616-76006617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73620667	chr16:76006654-76006655	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528032578	chr16:76006684-76006685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532676579	chr16:76006710-76006711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548106755	chr16:76006729-76006730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191536906	chr16:76006730-76006731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9925851	chr16:76006781-76006782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs72207076	chr16:76006801-76006802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184066761	chr16:76006813-76006814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552670426	chr16:76006826-76006827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566163065	chr16:76006836-76006837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570136605	chr16:76006846-76006847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370498702	chr16:76006847-76006848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75745819	chr16:76006859-76006860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188782225	chr16:76006902-76006903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374878619	chr16:76006909-76006910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375598389	chr16:76006927-76006928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567908859	chr16:76006929-76006930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112671515	chr16:76006973-76006974	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76000400-76007800	Weak transcription	Brain Angular Gyrus	brain
2	chr16:76006000-76006800	Enhancers	Brain Germinal Matrix	brain
3	chr16:76006800-76009200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:76007400-76007600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:76007800-76008000	Enhancers	Brain Angular Gyrus	brain
6	chr16:76008000-76011200	Weak transcription	Brain Angular Gyrus	brain
7	chr16:76009200-76009400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr16:76009200-76009600	Weak transcription	Brain Substantia Nigra	brain
9	chr16:76009200-76009800	Enhancers	Brain Anterior Caudate	brain
10	chr16:76009200-76011800	Enhancers	Brain Hippocampus Middle	brain
11	chr16:76009400-76011000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr16:76009600-76009800	Enhancers	Brain Cingulate Gyrus	brain
13	chr16:76009600-76010000	Enhancers	Brain Substantia Nigra	brain
14	chr16:76009800-76010800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:76009800-76017200	Weak transcription	Brain Anterior Caudate	brain
16	chr16:76010000-76011000	Weak transcription	Brain Substantia Nigra	brain
17	chr16:76010400-76011800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr16:76010800-76012000	Enhancers	Brain Cingulate Gyrus	brain
19	chr16:76011000-76011800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr16:76011000-76012000	Enhancers	Brain Substantia Nigra	brain
21	chr16:76011200-76011800	Enhancers	Brain Angular Gyrus	brain
22	chr16:76011800-76014000	Weak transcription	Brain Angular Gyrus	brain
23	chr16:76012000-76017000	Weak transcription	Brain Substantia Nigra	brain
24	chr16:76014600-76014800	Enhancers	Brain Germinal Matrix	brain
25	chr16:76014800-76015600	Weak transcription	Brain Germinal Matrix	brain
26	chr16:76015200-76019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:76015400-76017400	Weak transcription	Brain Angular Gyrus	brain
28	chr16:76015600-76018800	Enhancers	Brain Germinal Matrix	brain
29	chr16:76016200-76018400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr16:76016600-76016800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr16:76016600-76017600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:76016800-76017400	Enhancers	Fetal Brain Female	brain
33	chr16:76016800-76018200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr16:76016800-76018200	Enhancers	Brain Hippocampus Middle	brain
35	chr16:76017000-76017400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
36	chr16:76017000-76018000	Enhancers	Brain Substantia Nigra	brain
37	chr16:76017200-76017400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
38	chr16:76017200-76018000	Enhancers	Brain Anterior Caudate	brain
39	chr16:76017200-76018200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr16:76017200-76018400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr16:76017200-76018400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr16:76017400-76018000	Enhancers	Brain Angular Gyrus	brain
43	chr16:76017400-76018400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr16:76017400-76018400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr16:76017600-76017800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr16:76017600-76018000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:76017600-76018200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr16:76017800-76018000	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr16:76017800-76018200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr16:76017800-76018200	Enhancers	H1 Cell Line	embryonic stem cell

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