Variant report

Variant	nsv9434
Chromosome Location	chr16:30331545-30333072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377766711	chr16:30331547-30331548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573098993	chr16:30331678-30331679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542864177	chr16:30331700-30331701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529085600	chr16:30331715-30331716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561254128	chr16:30331717-30331718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs8048666	chr16:30331730-30331731	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs547217232	chr16:30331800-30331801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565615707	chr16:30331808-30331809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555547609	chr16:30331831-30331832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182611119	chr16:30331837-30331838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565680722	chr16:30331876-30331877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148907194	chr16:30331893-30331894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200683212	chr16:30331945-30331946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200540860	chr16:30332011-30332012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35195530	chr16:30332022-30332023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537053406	chr16:30332088-30332089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150656850	chr16:30332128-30332129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374986868	chr16:30332131-30332132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367636450	chr16:30332132-30332133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139114503	chr16:30332144-30332145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372130209	chr16:30332201-30332202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34876189	chr16:30332203-30332204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553169758	chr16:30332232-30332233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375165332	chr16:30332249-30332250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577780760	chr16:30332301-30332302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538716928	chr16:30332302-30332303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557035855	chr16:30332366-30332367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575195273	chr16:30332376-30332377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562876760	chr16:30332387-30332388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561419729	chr16:30332469-30332470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34778363	chr16:30332473-30332474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573507503	chr16:30332514-30332515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74328793	chr16:30332522-30332523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11442194	chr16:30332570-30332571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200347039	chr16:30332586-30332587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34355807	chr16:30332588-30332589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565441947	chr16:30332617-30332618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545477489	chr16:30332653-30332654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532601335	chr16:30332752-30332753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551455372	chr16:30332769-30332770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563414501	chr16:30332780-30332781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560618913	chr16:30332801-30332802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374601234	chr16:30332812-30332813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549029588	chr16:30332844-30332845	Weak transcription	n/a	n/a	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
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30286000-30345400	Weak transcription	Fetal Stomach	stomach
2	chr16:30288600-30338400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:30306000-30344800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:30310400-30336200	Weak transcription	Fetal Thymus	thymus
5	chr16:30310400-30338600	Weak transcription	Left Ventricle	heart
6	chr16:30320400-30335800	Weak transcription	Primary B cells from cord blood	blood
7	chr16:30320400-30345200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:30320600-30336200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr16:30320800-30332000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:30320800-30335400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr16:30320800-30336200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr16:30321000-30336400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:30324200-30345600	Weak transcription	Thymus	Thymus
14	chr16:30325800-30345800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr16:30326800-30345800	Weak transcription	Lung	lung
16	chr16:30328200-30341600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:30328600-30331600	Weak transcription	K562	blood
18	chr16:30329200-30345200	Weak transcription	Fetal Intestine Small	intestine
19	chr16:30329600-30345400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr16:30331000-30344800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:30331600-30332200	Enhancers	K562	blood
22	chr16:30332000-30332200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:30332200-30345200	Weak transcription	Monocytes-CD14+_RO01746	blood

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