Variant report

Variant	nsv974734
Chromosome Location	chr16:31666332-31689005
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:31674323-31674445	IMR90	lung:	n/a	n/a
2	CEBPB	chr16:31683541-31683764	IMR90	lung:	n/a	n/a
3	CEBPB	chr16:31670558-31670830	HepG2	liver:	n/a	chr16:31670663-31670674
4	CEBPB	chr16:31683559-31683729	A549	lung:	n/a	n/a
5	CEBPB	chr16:31683592-31683711	K562	blood:	n/a	n/a
6	CEBPB	chr16:31667934-31668092	HepG2	liver:	n/a	n/a
7	CEBPB	chr16:31674345-31674508	HepG2	liver:	n/a	n/a
8	CEBPB	chr16:31672482-31672657	K562	blood:	n/a	n/a
9	CEBPB	chr16:31674386-31674470	K562	blood:	n/a	n/a
10	CEBPB	chr16:31672523-31672638	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr16:31678587-31678748	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr16:31684419-31684496	ProgFib	skin:	n/a	n/a
13	CTCF	chr16:31682979-31683060	GM13976	blood:	n/a	n/a
14	CTCF	chr16:31668400-31668550	GM12865	blood:	n/a	n/a
15	CTCF	chr16:31678616-31678731	GM12878	blood:	n/a	n/a
16	CTCF	chr16:31679753-31679762	GM13976	blood:	n/a	n/a
17	CTCF	chr16:31672355-31672593	K562	blood:	n/a	n/a
18	CTCF	chr16:31683079-31683259	K562	blood:	n/a	n/a
19	CTCF	chr16:31678651-31678745	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr16:31672491-31672529	MCF-7	breast:	n/a	n/a
21	CTCF	chr16:31679763-31679805	GM13976	blood:	n/a	n/a
22	CTCF	chr16:31672440-31672590	K562	blood:	n/a	n/a
23	CTCF	chr16:31675540-31675637	Lung_OC	lung:	n/a	n/a
24	CTCF	chr16:31678600-31678734	MCF-7	breast:	n/a	n/a
25	EP300	chr16:31669349-31669424	K562	blood:	n/a	n/a
26	FOS	chr16:31680790-31680990	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr16:31680890-31680996	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr16:31680864-31680988	MCF10A-Er-Src	breast:	n/a	n/a
29	FOXA1	chr16:31678999-31679284	HepG2	liver:	n/a	n/a
30	FOXA1	chr16:31678883-31679278	HepG2	liver:	n/a	n/a
31	FOXA2	chr16:31682993-31683301	A549	lung:	n/a	n/a
32	HNF4A	chr16:31679012-31679222	HepG2	liver:	n/a	n/a
33	IRF1	chr16:31682230-31682235	K562	blood:	n/a	n/a
34	JUND	chr16:31680879-31681065	HepG2	liver:	n/a	chr16:31680930-31680941
35	KAP1	chr16:31679576-31679789	K562	blood:	n/a	n/a
36	MAFF	chr16:31686053-31686348	HepG2	liver:	n/a	n/a
37	MAFF	chr16:31686110-31686282	K562	blood:	n/a	n/a
38	MAFK	chr16:31686052-31686373	HepG2	liver:	n/a	n/a
39	MAFK	chr16:31686065-31686352	IMR90	lung:	n/a	n/a
40	MAFK	chr16:31686079-31686377	HepG2	liver:	n/a	n/a
41	MAFK	chr16:31686149-31686353	K562	blood:	n/a	n/a
42	MYC	chr16:31684482-31684584	MCF-7	breast:	n/a	n/a
43	MYC	chr16:31684422-31684424	MCF-7	breast:	n/a	n/a
44	POLR2A	chr16:31684408-31684705	A549	lung:	n/a	n/a
45	POLR2A	chr16:31684325-31684473	MCF-7	breast:	n/a	n/a
46	POLR2A	chr16:31684418-31684464	Gliobla	brain:	n/a	n/a
47	POLR2A	chr16:31684414-31684417	Gliobla	brain:	n/a	n/a
48	POLR2A	chr16:31684682-31684769	MCF-7	breast:	n/a	n/a
49	RFX5	chr16:31686801-31686817	K562	blood:	n/a	n/a
50	SETDB1	chr16:31682520-31682764	U2OS	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31667400..31669058-chr16:31673629..31675448,2	K562	blood:
2	chr16:31678539..31680649-chr16:31684441..31687167,2	K562	blood:
3	chr16:31678539..31680649-chr16:31684441..31687167,2	K562	blood:
4	chr16:31667400..31669058-chr16:31673629..31675448,2	K562	blood:

No data

Variant related genes	Relation type
RBM22P12	TF binding region

Extended variants
information (count: 366 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:366 , 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	rs190589244	chr16:31673005-31673006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113692111	chr16:31673014-31673015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552853999	chr16:31673023-31673024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546544932	chr16:31673038-31673039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537205996	chr16:31673040-31673041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183512623	chr16:31673143-31673144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532040812	chr16:31673158-31673159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4889679	chr16:31673207-31673208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569106483	chr16:31673285-31673286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188681400	chr16:31673292-31673293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548585726	chr16:31673313-31673314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373371032	chr16:31673317-31673318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4889680	chr16:31673332-31673333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113090473	chr16:31673384-31673385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370807962	chr16:31673401-31673402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538338693	chr16:31673416-31673417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557232662	chr16:31673472-31673473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575494277	chr16:31673480-31673481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191107662	chr16:31673535-31673536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117202848	chr16:31673537-31673538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182440837	chr16:31673591-31673592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114917258	chr16:31673680-31673681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4499253	chr16:31673700-31673701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553332736	chr16:31673727-31673728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1852667	chr16:31673738-31673739	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543896109	chr16:31673749-31673750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562779333	chr16:31673760-31673761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557848119	chr16:31673761-31673762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530212033	chr16:31673764-31673765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143334482	chr16:31673782-31673783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545062080	chr16:31673796-31673797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567067541	chr16:31673828-31673829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112384019	chr16:31673875-31673876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188307360	chr16:31673886-31673887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570849202	chr16:31673976-31673977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540823161	chr16:31674012-31674013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191502905	chr16:31674076-31674077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556671019	chr16:31674140-31674141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568536251	chr16:31674151-31674152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536069803	chr16:31674153-31674154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554705889	chr16:31674174-31674175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148358898	chr16:31674244-31674245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540520554	chr16:31674253-31674254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558172882	chr16:31674271-31674272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576416717	chr16:31674274-31674275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543931872	chr16:31674282-31674283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529630290	chr16:31674304-31674305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74017506	chr16:31674316-31674317	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529762061	chr16:31674318-31674319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542067472	chr16:31674336-31674337	Weak transcription Enhancers	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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31673000-31674000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:31673400-31674000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr16:31673800-31674000	Enhancers	Fetal Kidney	kidney
4	chr16:31674000-31674400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr16:31674000-31676200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:31674200-31674600	Enhancers	HSMMtube	muscle
7	chr16:31674400-31674600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:31674600-31675600	Weak transcription	HSMMtube	muscle
9	chr16:31674600-31676200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:31675200-31675400	Enhancers	Fetal Kidney	kidney
11	chr16:31675200-31677400	Enhancers	NHEK	skin
12	chr16:31675400-31677400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:31675400-31677400	Enhancers	HMEC	breast
14	chr16:31675600-31676600	Enhancers	HSMMtube	muscle
15	chr16:31676200-31676400	Enhancers	Fetal Kidney	kidney
16	chr16:31676200-31676600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:31676200-31676800	Enhancers	Primary hematopoietic stem cells	blood
18	chr16:31676200-31677000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:31676200-31677400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr16:31676400-31677400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:31677400-31679800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr16:31684400-31685200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:31685200-31689000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:31688200-31688600	Enhancers	Primary T helper cells PMA-I stimulated	--

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