Variant report

Variant	nsv984243
Chromosome Location	chr16:77597619-77602045
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	chr16:77598841..77600943-chr16:77604716..77607641,2	K562	blood:

Extended variants
information (count: 191 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569880418	chr16:77597803-77597804	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs142729793	chr16:77597825-77597826	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs280859	chr16:77597871-77597872	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182083663	chr16:77597908-77597909	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs56802020	chr16:77597987-77597988	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572308469	chr16:77598213-77598214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191078358	chr16:77598224-77598225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147636267	chr16:77598237-77598238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570247261	chr16:77598247-77598248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180744424	chr16:77598256-77598257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111840022	chr16:77598295-77598296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529223248	chr16:77598307-77598308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185788	chr16:77598346-77598347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11861692	chr16:77598360-77598361	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs62043940	chr16:77598377-77598378	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539691690	chr16:77598380-77598381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114147096	chr16:77598415-77598416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186658688	chr16:77598450-77598451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs172177	chr16:77598483-77598484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75884591	chr16:77598532-77598533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17622441	chr16:77598625-77598626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548710833	chr16:77598667-77598668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142857067	chr16:77598679-77598680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145421895	chr16:77598680-77598681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71835023	chr16:77598681-77598682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556323435	chr16:77598694-77598695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73571515	chr16:77598695-77598696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs535702457	chr16:77598697-77598698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12449093	chr16:77598706-77598707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs572278187	chr16:77598786-77598787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541255316	chr16:77598810-77598811	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs191313226	chr16:77598863-77598864	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs531819613	chr16:77598889-77598890	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs77575332	chr16:77598906-77598907	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs575134176	chr16:77598933-77598934	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs115573086	chr16:77599009-77599010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182487611	chr16:77599046-77599047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544454078	chr16:77599050-77599051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373086537	chr16:77599054-77599055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140522148	chr16:77599065-77599066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150426248	chr16:77599094-77599095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138168340	chr16:77599109-77599110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12448555	chr16:77599116-77599117	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7197951	chr16:77599124-77599125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs570913839	chr16:77599138-77599139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533312098	chr16:77599164-77599165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs280860	chr16:77599174-77599175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569908742	chr16:77599198-77599199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535479843	chr16:77599210-77599211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149556621	chr16:77599229-77599230	Enhancers Weak transcription	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
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
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77597800-77598000	Bivalent/Poised TSS	Liver	Liver
2	chr16:77598200-77599600	Enhancers	HUVEC	blood vessel
3	chr16:77598400-77599200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:77598400-77599200	Enhancers	NH-A	brain
5	chr16:77598800-77599000	Enhancers	Placenta	Placenta
6	chr16:77598800-77599000	Flanking Active TSS	A549	lung
7	chr16:77598800-77599200	Enhancers	NHDF-Ad	bronchial
8	chr16:77598800-77599200	Enhancers	NHLF	lung
9	chr16:77599000-77599200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:77599000-77599200	Enhancers	A549	lung
11	chr16:77599200-77599600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:77599200-77600800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:77599600-77601000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:77599600-77602000	Weak transcription	HUVEC	blood vessel
15	chr16:77600600-77601000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:77600800-77601200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:77600800-77602800	Enhancers	Adipose Nuclei	Adipose
18	chr16:77601000-77601200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:77601000-77601200	Enhancers	Fetal Muscle Trunk	muscle
20	chr16:77601000-77601200	Enhancers	Right Atrium	heart
21	chr16:77601000-77609000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr16:77601200-77602600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:77601200-77609000	Weak transcription	Right Atrium	heart
24	chr16:77602000-77605600	Enhancers	HUVEC	blood vessel

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