Variant report

Variant	esv12876
Chromosome Location	chr16:30870938-30876570
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30869091..30872693-chr16:30885269..30888258,3	K562	blood:
2	chr16:30876290..30879786-chr16:30913086..30915065,3	MCF-7	breast:
3	chr16:30866357..30873992-chr16:30883788..30889320,16	MCF-7	breast:
4	chr16:30875719..30877654-chr16:30903714..30906893,3	MCF-7	breast:
5	chr16:30871979..30874019-chr16:30905721..30908098,2	K562	blood:
6	chr16:30863260..30865823-chr16:30870781..30872827,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099385	chromatin interactions
ENSG00000150281	chromatin interactions
ENSG00000262721	chromatin interactions
ENSG00000265991	chromatin interactions
ENSG00000260083	chromatin interactions
ENSG00000211591	chromatin interactions

Extended variants
information (count: 209 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564388913	chr16:30870949-30870950	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs191968416	chr16:30870950-30870951	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs4889622	chr16:30870957-30870958	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562275936	chr16:30870968-30870969	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551142316	chr16:30871019-30871020	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529731055	chr16:30871062-30871063	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375911135	chr16:30871085-30871086	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369754953	chr16:30871108-30871109	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs184624639	chr16:30871187-30871188	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs548214673	chr16:30871191-30871192	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs566334910	chr16:30871196-30871197	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs527239157	chr16:30871208-30871209	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs140436128	chr16:30871241-30871242	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34884748	chr16:30871273-30871274	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570726591	chr16:30871275-30871276	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369371465	chr16:30871292-30871293	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs563678677	chr16:30871347-30871348	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs556373406	chr16:30871348-30871349	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs199837330	chr16:30871379-30871380	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs568588709	chr16:30871385-30871386	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs57050847	chr16:30871398-30871399	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs62058572	chr16:30871402-30871403	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184931743	chr16:30871407-30871408	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs535571056	chr16:30871409-30871410	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188642884	chr16:30871482-30871483	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs572350132	chr16:30871510-30871511	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs34840035	chr16:30871515-30871516	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558044080	chr16:30871551-30871552	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs576310868	chr16:30871558-30871559	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs578053154	chr16:30871629-30871630	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs543635912	chr16:30871663-30871664	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs76226742	chr16:30871669-30871670	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs539141185	chr16:30871718-30871719	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs4889536	chr16:30871755-30871756	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs574516005	chr16:30871769-30871770	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs141736605	chr16:30871770-30871771	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs193280160	chr16:30871825-30871826	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs527305315	chr16:30871841-30871842	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs115181659	chr16:30871870-30871871	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs370938361	chr16:30871962-30871963	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs564403422	chr16:30871981-30871982	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs150554702	chr16:30872152-30872153	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs138819388	chr16:30872155-30872156	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs568174627	chr16:30872208-30872209	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs535588019	chr16:30872217-30872218	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs547595512	chr16:30872271-30872272	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs566129484	chr16:30872288-30872289	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs539481018	chr16:30872294-30872295	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs143091902	chr16:30872295-30872296	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs565510513	chr16:30872311-30872312	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30845800-30884800	Weak transcription	Brain Germinal Matrix	brain
2	chr16:30846400-30883400	Weak transcription	Fetal Brain Female	brain
3	chr16:30846800-30885600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr16:30856200-30885800	Weak transcription	NH-A	brain
5	chr16:30856400-30883400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:30856600-30883400	Weak transcription	Lung	lung
7	chr16:30856600-30885000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr16:30856800-30871200	Weak transcription	Aorta	Aorta
9	chr16:30856800-30882400	Weak transcription	Brain Substantia Nigra	brain
10	chr16:30856800-30883400	Weak transcription	Pancreas	Pancrea
11	chr16:30856800-30883600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:30856800-30883600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr16:30856800-30883600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:30856800-30885600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr16:30856800-30885600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:30856800-30885600	Weak transcription	Esophagus	oesophagus
17	chr16:30856800-30885600	Weak transcription	Spleen	Spleen
18	chr16:30856800-30885800	Weak transcription	Brain Angular Gyrus	brain
19	chr16:30857000-30883200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:30857000-30883400	Weak transcription	Ovary	ovary
21	chr16:30857000-30883800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr16:30857000-30885400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr16:30857000-30885600	Weak transcription	Brain Hippocampus Middle	brain
24	chr16:30858800-30885800	Weak transcription	NHDF-Ad	bronchial
25	chr16:30863600-30885600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr16:30865400-30884400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr16:30865400-30885800	Weak transcription	Fetal Kidney	kidney
28	chr16:30865600-30885400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr16:30865600-30885600	Weak transcription	Adipose Nuclei	Adipose
30	chr16:30865800-30882200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr16:30866000-30885600	Weak transcription	Fetal Lung	lung
32	chr16:30866400-30882400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:30866400-30883000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr16:30866400-30885600	Weak transcription	Brain Anterior Caudate	brain
35	chr16:30866600-30881000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr16:30866600-30884400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:30866600-30885600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:30867000-30883000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:30867200-30876200	Weak transcription	Fetal Stomach	stomach
40	chr16:30867200-30881600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:30868200-30883200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr16:30868200-30883400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:30868200-30885000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr16:30868400-30885600	Weak transcription	Fetal Heart	heart
45	chr16:30868600-30881400	Weak transcription	Fetal Muscle Leg	muscle
46	chr16:30869000-30873600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:30870000-30872400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr16:30870000-30883000	Weak transcription	Placenta	Placenta
49	chr16:30870600-30884600	Weak transcription	NHEK	skin
50	chr16:30870600-30885600	Weak transcription	Hela-S3	cervix

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