Variant report

Variant	esv3437947
Chromosome Location	chr16:30831351-30832349
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	chr16:30825905..30827673-chr16:30830413..30833381,3	MCF-7	breast:
2	chr16:30831137..30833191-chr16:30833927..30836731,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4889492	chr16:30831366-30831367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539702673	chr16:30831377-30831378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113967554	chr16:30831378-30831379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576554284	chr16:30831379-30831380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544322277	chr16:30831432-30831433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555823912	chr16:30831439-30831440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146201411	chr16:30831517-30831518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574160027	chr16:30831647-30831648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184215588	chr16:30831725-30831726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4889493	chr16:30831729-30831730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367729906	chr16:30831754-30831755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188326008	chr16:30831773-30831774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370356971	chr16:30831775-30831776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76242002	chr16:30831793-30831794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559674586	chr16:30831795-30831796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528433400	chr16:30831797-30831798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546963126	chr16:30831799-30831800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112386274	chr16:30831823-30831824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527593357	chr16:30831901-30831902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536116773	chr16:30831923-30831924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568895084	chr16:30831938-30831939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568507844	chr16:30832000-30832001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372709617	chr16:30832086-30832087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564352993	chr16:30832098-30832099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376916530	chr16:30832102-30832103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550334410	chr16:30832129-30832130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3833424	chr16:30832220-30832221	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs568586213	chr16:30832273-30832274	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs529380936	chr16:30832296-30832297	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs547997504	chr16:30832306-30832307	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs547820093	chr16:30832323-30832324	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs565923486	chr16:30832329-30832330	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30826200-30832000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:30826200-30832200	Weak transcription	Ovary	ovary
3	chr16:30826400-30844800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:30826600-30832600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:30826600-30835200	Weak transcription	Gastric	stomach
6	chr16:30826600-30835200	Weak transcription	Stomach Mucosa	stomach
7	chr16:30826800-30832000	Weak transcription	HepG2	liver
8	chr16:30831800-30833400	Weak transcription	Brain Angular Gyrus	brain
9	chr16:30832000-30832400	Weak transcription	Esophagus	oesophagus
10	chr16:30832000-30832600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:30832000-30832600	Enhancers	HepG2	liver
12	chr16:30832200-30832400	ZNF genes & repeats	Ovary	ovary
13	chr16:30832200-30832600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:30832200-30832600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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