Variant report

Variant	nsv573054
Chromosome Location	chr16:76708417-76719088
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	chr16:76701550..76704283-chr16:76707898..76709517,2	K562	blood:
2	chr16:76703589..76705752-chr16:76708591..76711050,2	MCF-7	breast:

Extended variants
information (count: 420 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8058163	chr16:76708417-76708418	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531667541	chr16:76708431-76708432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148943595	chr16:76708477-76708478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143662676	chr16:76708484-76708485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551701457	chr16:76708510-76708511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183461283	chr16:76708527-76708528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs58885672	chr16:76708573-76708574	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553302470	chr16:76708597-76708598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187352127	chr16:76708600-76708601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192126986	chr16:76708626-76708627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34528539	chr16:76708645-76708646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539587628	chr16:76708649-76708650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556294121	chr16:76708651-76708652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539983316	chr16:76708720-76708721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185058261	chr16:76708749-76708750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112014340	chr16:76708763-76708764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189390986	chr16:76708765-76708766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572679948	chr16:76708766-76708767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569984262	chr16:76708778-76708779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs59130689	chr16:76708818-76708819	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564382401	chr16:76708857-76708858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533096882	chr16:76708860-76708861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555806944	chr16:76708861-76708862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549917005	chr16:76708871-76708872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563451160	chr16:76708893-76708894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529360197	chr16:76708914-76708915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74027513	chr16:76708938-76708939	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs77583426	chr16:76708941-76708942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80044597	chr16:76708946-76708947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547709169	chr16:76708995-76708996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570710303	chr16:76709085-76709086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368164214	chr16:76709086-76709087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372024171	chr16:76709221-76709222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539651620	chr16:76709235-76709236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535537013	chr16:76709240-76709241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556357225	chr16:76709307-76709308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374775015	chr16:76709326-76709327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56360380	chr16:76709347-76709348	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541276563	chr16:76709368-76709369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555105008	chr16:76709404-76709405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145178258	chr16:76709428-76709429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139007905	chr16:76709449-76709450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553405404	chr16:76709498-76709499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564443939	chr16:76709519-76709520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577876912	chr16:76709533-76709534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543623945	chr16:76709536-76709537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376640321	chr16:76709611-76709612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563519792	chr16:76709621-76709622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529402084	chr16:76709652-76709653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117108223	chr16:76709686-76709687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76696600-76714800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:76704800-76709400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:76708000-76709800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr16:76708000-76710800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr16:76708200-76710200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:76708600-76711400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr16:76708800-76709000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr16:76708800-76709600	Enhancers	Fetal Lung	lung
9	chr16:76708800-76710800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:76709000-76710200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr16:76709200-76711200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:76709200-76711400	Enhancers	HMEC	breast
13	chr16:76709400-76711000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:76709400-76711400	Enhancers	Placenta	Placenta
15	chr16:76709800-76710600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr16:76710000-76710800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr16:76710200-76710800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr16:76710200-76710800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr16:76710200-76710800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr16:76710200-76710800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:76710400-76710800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr16:76710800-76716400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr16:76711400-76712600	Weak transcription	Placenta	Placenta
24	chr16:76711400-76712600	Weak transcription	HMEC	breast
25	chr16:76712600-76713000	Enhancers	Placenta	Placenta
26	chr16:76712800-76713000	Enhancers	HMEC	breast
27	chr16:76714800-76715600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr16:76715600-76716600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr16:76716400-76716800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr16:76716400-76717800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr16:76716600-76716800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr16:76716600-76716800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr16:76716600-76717600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr16:76716600-76717800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr16:76716600-76718000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr16:76716600-76718600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr16:76716800-76717000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr16:76716800-76717000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr16:76716800-76717000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr16:76716800-76717200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:76716800-76717400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr16:76717000-76717400	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr16:76717000-76717400	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr16:76717400-76717600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr16:76717400-76717600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr16:76717400-76718000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr16:76717400-76718200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr16:76717600-76717800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr16:76717600-76718200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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