Variant report

Variant	nsv573022
Chromosome Location	chr16:76418711-76444353
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	chr16:76421818..76424813-chr16:76424956..76427110,2	MCF-7	breast:
2	chr16:76421818..76424813-chr16:76424956..76427110,2	MCF-7	breast:

Extended variants
information (count: 782 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:782 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9319496	chr16:76418711-76418712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566704670	chr16:76418738-76418739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187599580	chr16:76418748-76418749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574320131	chr16:76418768-76418769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551886034	chr16:76418828-76418829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144874377	chr16:76418845-76418846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537464617	chr16:76418866-76418867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377182037	chr16:76418873-76418874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149038720	chr16:76418882-76418883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574795286	chr16:76418917-76418918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534557857	chr16:76418962-76418963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16944331	chr16:76418974-76418975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs8052036	chr16:76418991-76418992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184829438	chr16:76419021-76419022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546060350	chr16:76419022-76419023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562990270	chr16:76419028-76419029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190165579	chr16:76419034-76419035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370080191	chr16:76419040-76419041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562013139	chr16:76419051-76419052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181660581	chr16:76419083-76419084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563109728	chr16:76419095-76419096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9319497	chr16:76419114-76419115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs560171325	chr16:76419202-76419203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143459966	chr16:76419207-76419208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184680825	chr16:76419213-76419214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17699441	chr16:76419214-76419215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs537501014	chr16:76419259-76419260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565330053	chr16:76419270-76419271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547879243	chr16:76419283-76419284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568090548	chr16:76419295-76419296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3851755	chr16:76419314-76419315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs10642003	chr16:76419354-76419355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547937403	chr16:76419365-76419366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554478805	chr16:76419386-76419387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552327612	chr16:76419402-76419403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189511235	chr16:76419411-76419412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527552519	chr16:76419431-76419432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556752828	chr16:76419435-76419436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200855947	chr16:76419444-76419445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs5817989	chr16:76419445-76419446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576610533	chr16:76419453-76419454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3035895	chr16:76419469-76419470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59807067	chr16:76419471-76419472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397794416	chr16:76419473-76419474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547511441	chr16:76419491-76419492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375599395	chr16:76419495-76419496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567780164	chr16:76419502-76419503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570818304	chr16:76419503-76419504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536708276	chr16:76419545-76419546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114546286	chr16:76419577-76419578	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
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
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76395400-76421800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:76410000-76422000	Weak transcription	Brain Hippocampus Middle	brain
3	chr16:76410000-76427400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr16:76417200-76422000	Weak transcription	Brain Substantia Nigra	brain
5	chr16:76419600-76420000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr16:76420000-76420400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr16:76420400-76420600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr16:76420400-76422200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:76420600-76424000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr16:76421000-76421200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:76421600-76422200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr16:76421800-76422200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr16:76421800-76422200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr16:76422000-76422400	Enhancers	Brain Hippocampus Middle	brain
15	chr16:76422000-76423200	Enhancers	Brain Substantia Nigra	brain
16	chr16:76422200-76426600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:76422200-76432200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr16:76422400-76432000	Weak transcription	Brain Hippocampus Middle	brain
19	chr16:76422600-76424600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:76423000-76423600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:76423200-76427000	Weak transcription	Brain Substantia Nigra	brain
22	chr16:76423400-76424200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:76424000-76424400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr16:76424400-76425600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr16:76425600-76425800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr16:76426600-76427200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr16:76426600-76427400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr16:76426800-76427200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr16:76427000-76427600	Enhancers	Brain Substantia Nigra	brain
30	chr16:76427800-76428200	Enhancers	Fetal Lung	lung
31	chr16:76428800-76429000	Enhancers	HepG2	liver
32	chr16:76429200-76430200	Weak transcription	HepG2	liver
33	chr16:76430200-76431600	Enhancers	HepG2	liver
34	chr16:76430800-76431200	Enhancers	Liver	Liver
35	chr16:76432200-76432400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
36	chr16:76432200-76432400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr16:76442600-76444600	Enhancers	Fetal Lung	lung

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