Variant report

Variant	esv2375355
Chromosome Location	chr16:31921272-31924451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr16:31921392-31921528	K562	blood:	n/a	n/a
2	MAFK	chr16:31921815-31921968	HepG2	liver:	n/a	n/a
3	NFE2	chr16:31924326-31924327	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:31922412-31922416	GM12878	blood:	n/a	n/a
5	RCOR1	chr16:31923748-31923765	GM12878	blood:	n/a	n/a
6	STAT3	chr16:31924235-31924435	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF720-2	chr16:31923175-31928172	ENSG00000262657.1

Variant related genes	Relation type
ZNF267	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187589220	chr16:31921282-31921283	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193031150	chr16:31921284-31921285	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28881597	chr16:31921303-31921304	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs548859034	chr16:31921341-31921342	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560664403	chr16:31921380-31921381	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145984193	chr16:31921381-31921382	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552525282	chr16:31921439-31921440	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs570930592	chr16:31921450-31921451	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs538360819	chr16:31921513-31921514	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs550161110	chr16:31921525-31921526	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs78332418	chr16:31921664-31921665	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550954970	chr16:31921667-31921668	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185136418	chr16:31921749-31921750	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568470559	chr16:31921757-31921758	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189246326	chr16:31921783-31921784	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76743315	chr16:31921816-31921817	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs139861900	chr16:31921849-31921850	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs569552053	chr16:31921860-31921861	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs149834918	chr16:31921861-31921862	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs558397443	chr16:31921921-31921922	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs537515716	chr16:31922025-31922026	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578214166	chr16:31922026-31922027	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193059580	chr16:31922069-31922070	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7193710	chr16:31922108-31922109	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12444528	chr16:31922117-31922118	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576489611	chr16:31922190-31922191	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373646669	chr16:31922271-31922272	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543905643	chr16:31922301-31922302	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576979437	chr16:31922448-31922449	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72793040	chr16:31922461-31922462	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574365131	chr16:31922466-31922467	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541497260	chr16:31922473-31922474	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560816563	chr16:31922496-31922497	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545021071	chr16:31922511-31922512	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376128833	chr16:31922582-31922583	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144820121	chr16:31922595-31922596	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546346748	chr16:31922629-31922630	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564681258	chr16:31922665-31922666	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560373205	chr16:31922700-31922701	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369896108	chr16:31922765-31922766	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571741733	chr16:31922784-31922785	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76772751	chr16:31922787-31922788	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373351395	chr16:31922946-31922947	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568600530	chr16:31923011-31923012	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529264119	chr16:31923055-31923056	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547492707	chr16:31923078-31923079	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148590777	chr16:31923102-31923103	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376394261	chr16:31923111-31923112	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547441604	chr16:31923147-31923148	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558283414	chr16:31923254-31923255	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	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
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
Sezary syndrome	18413736	CNVD
Wilms tumour	21544195	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Autism	19287141	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31907600-31921400	Weak transcription	Hela-S3	cervix
2	chr16:31907800-31924400	Weak transcription	HSMMtube	muscle
3	chr16:31908000-31924600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:31910400-31922400	Weak transcription	HSMM	muscle
5	chr16:31917000-31921400	ZNF genes & repeats	Liver	Liver
6	chr16:31917000-31921800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:31917000-31921800	ZNF genes & repeats	Primary B cells from cord blood	blood
8	chr16:31917000-31921800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr16:31917000-31921800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:31917000-31922000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr16:31917000-31931200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:31917000-31931600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr16:31917000-31932000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr16:31917000-31932200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr16:31917000-31932400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:31917000-31932400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr16:31917000-31934000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:31917000-31935200	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr16:31917000-31935400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:31917200-31921800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr16:31917200-31930600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
22	chr16:31917200-31930800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
23	chr16:31917200-31931600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
24	chr16:31917400-31930200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr16:31917400-31930600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:31917600-31921400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
27	chr16:31917600-31923400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr16:31918000-31930400	ZNF genes & repeats	A549	lung
29	chr16:31918200-31922600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr16:31918200-31924400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr16:31918200-31924400	Weak transcription	Pancreas	Pancrea
32	chr16:31918200-31924400	Weak transcription	Thymus	Thymus
33	chr16:31918400-31924400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:31918800-31923600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr16:31919400-31921400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
36	chr16:31919600-31930400	ZNF genes & repeats	Dnd41	blood
37	chr16:31920200-31922800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:31920400-31930400	ZNF genes & repeats	GM12878-XiMat	blood
39	chr16:31920800-31921800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr16:31920800-31924400	Weak transcription	Esophagus	oesophagus
41	chr16:31920800-31924400	Weak transcription	Placenta	Placenta
42	chr16:31920800-31924400	Weak transcription	Gastric	stomach
43	chr16:31920800-31924400	Weak transcription	Ovary	ovary
44	chr16:31920800-31929800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
45	chr16:31921000-31921600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr16:31921000-31922800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:31921200-31922200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr16:31921200-31924400	Weak transcription	Stomach Mucosa	stomach
49	chr16:31921200-31932400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:31921400-31922200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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