Variant report

Variant	nsv960381
Chromosome Location	chr16:74136209-74157935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74069417..74070349-chr16:74141043..74142294,9	MCF-7	breast:
2	chr16:74097992..74098897-chr16:74141463..74142359,4	MCF-7	breast:
3	chr16:74155742..74156704-chr8:91618988..91619904,2	MCF-7	breast:

Extended variants
information (count: 472 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76165898	chr16:74136210-74136211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530754450	chr16:74136283-74136284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550565462	chr16:74136308-74136309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567534228	chr16:74136314-74136315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530041844	chr16:74136316-74136317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181790541	chr16:74136324-74136325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184434070	chr16:74136380-74136381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539093330	chr16:74136421-74136422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144486675	chr16:74136432-74136433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569320146	chr16:74136482-74136483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189915295	chr16:74136488-74136489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554892553	chr16:74136525-74136526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574789154	chr16:74136531-74136532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540568802	chr16:74136575-74136576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552513615	chr16:74136627-74136628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146680442	chr16:74136676-74136677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs386792093	chr16:74136686-74136687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10459874	chr16:74136687-74136688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9927439	chr16:74136744-74136745	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs547213311	chr16:74136753-74136754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181559507	chr16:74136754-74136755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530006549	chr16:74136773-74136774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546924008	chr16:74136792-74136793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566824184	chr16:74136875-74136876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186329994	chr16:74136876-74136877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552324536	chr16:74136900-74136901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557585284	chr16:74136951-74136952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569312873	chr16:74136953-74136954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114584177	chr16:74136965-74136966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555138118	chr16:74136977-74136978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150285753	chr16:74136992-74136993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7186254	chr16:74137047-74137048	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567381679	chr16:74137051-74137052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572468904	chr16:74137054-74137055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112831951	chr16:74137123-74137124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7186443	chr16:74137152-74137153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149051249	chr16:74137153-74137154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544016970	chr16:74137161-74137162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561024259	chr16:74137167-74137168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574687239	chr16:74137220-74137221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540504859	chr16:74137223-74137224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559379384	chr16:74137246-74137247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529727237	chr16:74137271-74137272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552539766	chr16:74137276-74137277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562784076	chr16:74137282-74137283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531793922	chr16:74137297-74137298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191233547	chr16:74137298-74137299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568288747	chr16:74137320-74137321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143139203	chr16:74137336-74137337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547617981	chr16:74137362-74137363	Weak transcription Enhancers	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	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74132800-74136600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr16:74133000-74137200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:74133200-74136400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr16:74133200-74136600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr16:74133200-74136600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:74135400-74136400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:74135400-74136600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:74135400-74136600	Enhancers	Fetal Brain Female	brain
9	chr16:74135800-74136400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr16:74135800-74136600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr16:74135800-74136800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr16:74135800-74137400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr16:74136200-74136600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr16:74136200-74137200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr16:74136200-74137600	Weak transcription	Dnd41	blood
16	chr16:74136400-74137200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:74136400-74141600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr16:74136600-74138400	Weak transcription	Fetal Brain Female	brain
19	chr16:74136600-74141400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr16:74136600-74141600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr16:74136600-74141600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr16:74136800-74141600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr16:74137200-74137400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:74137200-74141600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr16:74137400-74141600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr16:74137600-74138200	Enhancers	Dnd41	blood
27	chr16:74138200-74141400	Weak transcription	Dnd41	blood
28	chr16:74138400-74138600	Enhancers	Fetal Brain Female	brain
29	chr16:74139600-74139800	Enhancers	Primary hematopoietic stem cells	blood
30	chr16:74141200-74141800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr16:74141400-74141600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr16:74141400-74141600	Enhancers	Adipose Nuclei	Adipose
33	chr16:74141400-74141800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr16:74141400-74142000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr16:74141400-74142000	Enhancers	Dnd41	blood
36	chr16:74141400-74142200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr16:74141600-74141800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:74141600-74141800	Enhancers	Primary hematopoietic stem cells	blood
39	chr16:74141600-74141800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr16:74141600-74141800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:74141600-74141800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr16:74141600-74141800	Enhancers	Thymus	Thymus
43	chr16:74141600-74141800	Flanking Active TSS	A549	lung
44	chr16:74141600-74141800	Enhancers	Hela-S3	cervix
45	chr16:74141600-74142000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr16:74141600-74142000	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr16:74141600-74142000	Enhancers	Brain Cingulate Gyrus	brain
48	chr16:74141600-74142000	Active TSS	Brain Hippocampus Middle	brain
49	chr16:74141600-74142200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr16:74141600-74142200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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