Variant report

Variant	esv3414647
Chromosome Location	chr16:31254430-31254693
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	chr16:31253838..31255685-chr16:31257972..31259890,2	K562	blood:
2	chr16:31252663..31255593-chr16:31260299..31264872,4	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558061241	chr16:31254435-31254436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548862439	chr16:31254449-31254450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576266441	chr16:31254519-31254520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200510516	chr16:31254533-31254534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112763453	chr16:31254537-31254538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558137501	chr16:31254538-31254539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533344489	chr16:31254540-31254541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199606585	chr16:31254541-31254542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113271984	chr16:31254549-31254550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs56783899	chr16:31254561-31254562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59710265	chr16:31254562-31254563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200759663	chr16:31254569-31254570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112906973	chr16:31254571-31254572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368157417	chr16:31254601-31254602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543627863	chr16:31254637-31254638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12920848	chr16:31254679-31254680	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs200415019	chr16:31254689-31254690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370935985	chr16:31254691-31254692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559744098	chr16:31254693-31254694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
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
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31250400-31262600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:31252600-31258000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:31252800-31255200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr16:31253600-31257000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr16:31253600-31257800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:31253800-31255200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:31253800-31255400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr16:31253800-31255400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr16:31253800-31257200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr16:31253800-31259200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr16:31254000-31255000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:31254000-31255400	Weak transcription	K562	blood
13	chr16:31254000-31257000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:31254000-31257000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr16:31254000-31257000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr16:31254200-31255200	Weak transcription	GM12878-XiMat	blood
17	chr16:31254200-31255400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:31254200-31256600	Enhancers	Primary B cells from cord blood	blood
19	chr16:31254200-31256600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr16:31254200-31259000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:31254400-31255200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr16:31254400-31255800	Weak transcription	Spleen	Spleen

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