Variant report

Variant	nsv9437
Chromosome Location	chr16:30339340-30346359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30346170..30348596-chr16:30376800..30378752,2	MCF-7	breast:
2	chr16:30344696..30347636-chr16:30378058..30380333,2	MCF-7	breast:
3	chr16:30345814..30348548-chr16:30669791..30672071,2	MCF-7	breast:
4	chr16:30346164..30346852-chrX:118109757..118110705,2	Hela-S3	cervix:
5	chr16:30345346..30347194-chr16:30364689..30366452,2	MCF-7	breast:
6	chr16:30345231..30348064-chr16:30583285..30585199,2	MCF-7	breast:
7	chr16:30346222..30347053-chr6:2999778..3000588,2	Hela-S3	cervix:
8	chr16:30345604..30348863-chr16:30403977..30407853,5	MCF-7	breast:
9	chr16:30345336..30346987-chr16:30364992..30366777,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239791	chromatin interactions
ENSG00000175556	chromatin interactions
ENSG00000229809	chromatin interactions
ENSG00000169221	chromatin interactions
ENSG00000180035	chromatin interactions
ENSG00000156860	chromatin interactions
ENSG00000169217	chromatin interactions
ENSG00000180096	chromatin interactions
ENSG00000124588	chromatin interactions
ENSG00000260219	chromatin interactions

Extended variants
information (count: 193 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553766300	chr16:30339340-30339341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375990354	chr16:30339341-30339342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78144809	chr16:30339372-30339373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539717813	chr16:30339378-30339379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578160273	chr16:30339382-30339383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539334850	chr16:30339484-30339485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377422712	chr16:30339491-30339492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183183353	chr16:30339500-30339501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372292452	chr16:30339550-30339551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537284521	chr16:30339564-30339565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555576566	chr16:30339567-30339568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574112952	chr16:30339658-30339659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541181259	chr16:30339697-30339698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112124034	chr16:30339708-30339709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559669807	chr16:30339741-30339742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77948921	chr16:30339753-30339754	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs374000495	chr16:30339770-30339771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563676901	chr16:30339830-30339831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35602064	chr16:30339884-30339885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35988259	chr16:30339886-30339887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374040741	chr16:30339949-30339950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367928902	chr16:30339957-30339958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371869299	chr16:30339992-30339993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138023838	chr16:30340001-30340002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199561507	chr16:30340003-30340004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200275721	chr16:30340005-30340006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372255718	chr16:30340007-30340008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72221893	chr16:30340008-30340009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531002787	chr16:30340021-30340022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549578931	chr16:30340025-30340026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35179457	chr16:30340033-30340034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561614755	chr16:30340052-30340053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199837920	chr16:30340085-30340086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528976041	chr16:30340097-30340098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200462279	chr16:30340165-30340166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189055610	chr16:30340222-30340223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368162653	chr16:30340245-30340246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148363699	chr16:30340271-30340272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547198770	chr16:30340277-30340278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576483172	chr16:30340293-30340294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371673462	chr16:30340323-30340324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565634465	chr16:30340342-30340343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35704636	chr16:30340448-30340449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35444080	chr16:30340486-30340487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539451349	chr16:30340502-30340503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374260772	chr16:30340511-30340512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34169462	chr16:30340512-30340513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375329091	chr16:30340517-30340518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368651477	chr16:30340526-30340527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570012747	chr16:30340530-30340531	Weak transcription	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
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
Breast cancer	22522925	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30286000-30345400	Weak transcription	Fetal Stomach	stomach
2	chr16:30306000-30344800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:30320400-30345200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:30324200-30345600	Weak transcription	Thymus	Thymus
5	chr16:30325800-30345800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr16:30326800-30345800	Weak transcription	Lung	lung
7	chr16:30328200-30341600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:30329200-30345200	Weak transcription	Fetal Intestine Small	intestine
9	chr16:30329600-30345400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr16:30331000-30344800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:30332200-30345200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr16:30336200-30344600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr16:30336400-30345200	Weak transcription	Fetal Thymus	thymus
14	chr16:30336400-30345400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr16:30337000-30344000	Weak transcription	GM12878-XiMat	blood
16	chr16:30337000-30345200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr16:30337000-30345200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr16:30339000-30344000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr16:30341400-30341600	Enhancers	Small Intestine	intestine
20	chr16:30341600-30345800	Weak transcription	Small Intestine	intestine
21	chr16:30341800-30342000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:30341800-30342200	Enhancers	Liver	Liver
23	chr16:30341800-30342400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr16:30342000-30342200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr16:30342000-30342400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr16:30342200-30342400	Enhancers	Dnd41	blood
27	chr16:30342200-30345400	Weak transcription	Liver	Liver
28	chr16:30342400-30343800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr16:30342400-30344000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr16:30342400-30344000	Weak transcription	Dnd41	blood
31	chr16:30342600-30343800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr16:30343800-30344200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr16:30343800-30344200	Enhancers	HepG2	liver
34	chr16:30343800-30344200	Enhancers	K562	blood
35	chr16:30343800-30345400	Enhancers	Primary B cells from cord blood	blood
36	chr16:30343800-30345800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr16:30344000-30344200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:30344000-30344200	Enhancers	Fetal Heart	heart
39	chr16:30344000-30344200	Active TSS	HSMMtube	muscle
40	chr16:30344000-30344400	Enhancers	Hela-S3	cervix
41	chr16:30344000-30344600	Enhancers	Dnd41	blood
42	chr16:30344000-30344800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr16:30344000-30345200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:30344000-30345600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr16:30344000-30347000	Active TSS	GM12878-XiMat	blood
46	chr16:30344000-30347000	Active TSS	NHEK	skin
47	chr16:30344200-30344400	Enhancers	Brain Substantia Nigra	brain
48	chr16:30344200-30344400	Enhancers	A549	lung
49	chr16:30344200-30344400	Flanking Active TSS	HepG2	liver
50	chr16:30344200-30344400	Enhancers	HSMMtube	muscle

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