Variant report

Variant	esv3422314
Chromosome Location	chr16:31327209-31327690
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	chr16:31326402..31329084-chr16:31335600..31338483,2	K562	blood:
2	chr16:31327344..31330164-chr16:31471037..31472860,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140691	chromatin interactions
ENSG00000169896	chromatin interactions
ENSG00000260267	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190217834	chr16:31327237-31327238	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182457087	chr16:31327241-31327242	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542339976	chr16:31327244-31327245	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150899030	chr16:31327280-31327281	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529106699	chr16:31327283-31327284	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184207633	chr16:31327318-31327319	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12716993	chr16:31327331-31327332	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs12716994	chr16:31327337-31327338	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550882762	chr16:31327339-31327340	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568759395	chr16:31327342-31327343	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139226828	chr16:31327359-31327360	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs71151470	chr16:31327366-31327367	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs62051482	chr16:31327372-31327373	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs62051483	chr16:31327376-31327377	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs62051484	chr16:31327377-31327378	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs62051485	chr16:31327383-31327384	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs62051508	chr16:31327388-31327389	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs62051509	chr16:31327397-31327398	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs62051510	chr16:31327433-31327434	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs62051511	chr16:31327439-31327440	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs62051512	chr16:31327444-31327445	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs62051513	chr16:31327446-31327447	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs62051514	chr16:31327451-31327452	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs533664756	chr16:31327500-31327501	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs558691116	chr16:31327501-31327502	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs12930677	chr16:31327549-31327550	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs12930679	chr16:31327551-31327552	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs556862703	chr16:31327570-31327571	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs536446230	chr16:31327595-31327596	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs139567602	chr16:31327599-31327600	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs370608660	chr16:31327601-31327602	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs374253286	chr16:31327602-31327603	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs376338183	chr16:31327660-31327661	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31323000-31344600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr16:31326000-31328400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr16:31326200-31333000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:31326400-31328400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:31326400-31329000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr16:31326800-31327400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:31327000-31327800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
8	chr16:31327400-31332200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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