Variant report

Variant	nsv9433
Chromosome Location	chr16:30307507-30328349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 371 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148595900	chr16:30307508-30307509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548757265	chr16:30307548-30307549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567379402	chr16:30307685-30307686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534593098	chr16:30307768-30307769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374514105	chr16:30307794-30307795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62055448	chr16:30307851-30307852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377691264	chr16:30307855-30307856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577981478	chr16:30307861-30307862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538588903	chr16:30307897-30307898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557237667	chr16:30307967-30307968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575316212	chr16:30308007-30308008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201606962	chr16:30308097-30308098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189736980	chr16:30308102-30308103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180888867	chr16:30308110-30308111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112582510	chr16:30308145-30308146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62055449	chr16:30308242-30308243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371501871	chr16:30308282-30308283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573039872	chr16:30308428-30308429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546030849	chr16:30308476-30308477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373810744	chr16:30308508-30308509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376946700	chr16:30308534-30308535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540212957	chr16:30308611-30308612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370588146	chr16:30308718-30308719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562372753	chr16:30308754-30308755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532557558	chr16:30308877-30308878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373940369	chr16:30308894-30308895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368382268	chr16:30308895-30308896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563200157	chr16:30309000-30309001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543335461	chr16:30309020-30309021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558851690	chr16:30309149-30309150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199575922	chr16:30309155-30309156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74705540	chr16:30309167-30309168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75239966	chr16:30309168-30309169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112510271	chr16:30309174-30309175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200627481	chr16:30309339-30309340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201951800	chr16:30309359-30309360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370620892	chr16:30309380-30309381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530194451	chr16:30309384-30309385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199839660	chr16:30309391-30309392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548805815	chr16:30309393-30309394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576757188	chr16:30309401-30309402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185541107	chr16:30309417-30309418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528222195	chr16:30309449-30309450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190435196	chr16:30309450-30309451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571227663	chr16:30309487-30309488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538649651	chr16:30309582-30309583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556927102	chr16:30309583-30309584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569139912	chr16:30309629-30309630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536047657	chr16:30309641-30309642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554388367	chr16:30309645-30309646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30278000-30314800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:30278000-30319600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr16:30278000-30319800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr16:30278000-30320200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr16:30278600-30319600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:30286000-30345400	Weak transcription	Fetal Stomach	stomach
7	chr16:30286200-30317600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr16:30286400-30327800	Weak transcription	Fetal Intestine Small	intestine
9	chr16:30288200-30319800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr16:30288400-30319600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr16:30288400-30319600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:30288400-30319800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr16:30288400-30320000	Weak transcription	Adipose Nuclei	Adipose
14	chr16:30288400-30329400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr16:30288600-30319600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr16:30288600-30338400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:30294800-30313600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:30306000-30344800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:30306200-30329400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:30307200-30313000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr16:30307600-30314000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:30307600-30315200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr16:30307600-30319800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr16:30308000-30313800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr16:30308000-30313800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr16:30308200-30314200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:30308200-30319600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr16:30308200-30320000	Weak transcription	Liver	Liver
29	chr16:30308400-30319600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr16:30308400-30319600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr16:30308400-30320200	Weak transcription	HepG2	liver
32	chr16:30309200-30312600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr16:30309600-30312200	Weak transcription	NH-A	brain
34	chr16:30309600-30312400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:30309800-30312400	Weak transcription	Fetal Muscle Leg	muscle
36	chr16:30310000-30328200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr16:30310400-30313600	Weak transcription	Pancreas	Pancrea
38	chr16:30310400-30319800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:30310400-30336200	Weak transcription	Fetal Thymus	thymus
40	chr16:30310400-30338600	Weak transcription	Left Ventricle	heart
41	chr16:30310600-30313800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr16:30310600-30319600	Weak transcription	Dnd41	blood
43	chr16:30310600-30319800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr16:30310600-30320000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr16:30310600-30321600	Weak transcription	Psoas Muscle	Psoas
46	chr16:30310800-30313400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:30310800-30313400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr16:30310800-30313600	Weak transcription	Brain Germinal Matrix	brain
49	chr16:30310800-30315600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr16:30311000-30313400	Weak transcription	Spleen	Spleen

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