Variant report

Variant	nsv471389
Chromosome Location	chr16:30206469-30215649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:355)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr16:30210902-30211673	HepG2	liver:	n/a	n/a
2	CBX3	chr16:30210416-30211329	K562	blood:	n/a	n/a
3	CEBPB	chr16:30208329-30208542	HepG2	liver:	n/a	chr16:30208477-30208486 chr16:30208475-30208488
4	CEBPB	chr16:30208339-30208523	HepG2	liver:	n/a	chr16:30208477-30208486 chr16:30208475-30208488
5	CEBPB	chr16:30211021-30211237	K562	blood:	n/a	n/a
6	CEBPB	chr16:30210926-30211366	K562	blood:	n/a	n/a
7	CTCF	chr16:30208351-30208459	MCF-7	breast:	n/a	n/a
8	CTCF	chr16:30208343-30208476	MCF-7	breast:	n/a	n/a
9	CTCF	chr16:30208325-30208502	MCF-7	breast:	n/a	n/a
10	CTCF	chr16:30210589-30210638	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr16:30208345-30208461	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr16:30208380-30208530	HepG2	liver:	n/a	n/a
13	CTCF	chr16:30208329-30208503	MCF-7	breast:	n/a	n/a
14	CTCF	chr16:30210610-30210616	Lung_OC	lung:	n/a	n/a
15	CTCF	chr16:30208333-30208480	MCF-7	breast:	n/a	n/a
16	CTCF	chr16:30208372-30208445	H1-hESC	embryonic stem cell:	n/a	n/a
17	EBF1	chr16:30208283-30208518	GM12878	blood:	n/a	n/a
18	EBF1	chr16:30208294-30208457	GM12878	blood:	n/a	n/a
19	FOSL2	chr16:30214129-30214646	HepG2	liver:	n/a	chr16:30214524-30214534
20	FOSL2	chr16:30207876-30208522	HepG2	liver:	n/a	chr16:30208065-30208073
21	FOSL2	chr16:30211897-30212893	HepG2	liver:	n/a	n/a
22	FOSL2	chr16:30214776-30215378	HepG2	liver:	n/a	n/a
23	FOSL2	chr16:30207928-30208291	HepG2	liver:	n/a	chr16:30208065-30208073
24	FOSL2	chr16:30210066-30211862	HepG2	liver:	n/a	chr16:30211119-30211131 chr16:30211120-30211130 chr16:30211120-30211129 chr16:30211122-30211129 chr16:30211121-30211130 chr16:30211121-30211129
25	FOSL2	chr16:30209584-30210019	HepG2	liver:	n/a	n/a
26	FOSL2	chr16:30208647-30209060	HepG2	liver:	n/a	n/a
27	FOSL2	chr16:30215596-30216865	HepG2	liver:	n/a	n/a
28	FOSL2	chr16:30210336-30211707	HepG2	liver:	n/a	chr16:30211119-30211131 chr16:30211120-30211130 chr16:30211120-30211129 chr16:30211122-30211129 chr16:30211121-30211130 chr16:30211121-30211129
29	FOXA1	chr16:30210165-30211627	HepG2	liver:	n/a	n/a
30	FOXA1	chr16:30208067-30208498	HepG2	liver:	n/a	n/a
31	FOXA2	chr16:30210650-30211353	A549	lung:	n/a	n/a
32	FOXA2	chr16:30210453-30211492	A549	lung:	n/a	n/a
33	GABPA	chr16:30204328-30206572	HepG2	liver:	n/a	chr16:30206195-30206204
34	GABPA	chr16:30211247-30211442	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr16:30211002-30211249	Hela-S3	cervix:	n/a	n/a
36	GABPA	chr16:30208664-30208774	Hela-S3	cervix:	n/a	n/a
37	HEY1	chr16:30212356-30212558	HepG2	liver:	n/a	n/a
38	HEY1	chr16:30215012-30215152	HepG2	liver:	n/a	n/a
39	HEY1	chr16:30207891-30208596	HepG2	liver:	n/a	n/a
40	HEY1	chr16:30210479-30210739	K562	blood:	n/a	n/a
41	HEY1	chr16:30207017-30207610	HepG2	liver:	n/a	n/a
42	HEY1	chr16:30212168-30212338	HepG2	liver:	n/a	n/a
43	HEY1	chr16:30206369-30206728	HepG2	liver:	n/a	n/a
44	HEY1	chr16:30213726-30213967	HepG2	liver:	n/a	n/a
45	HEY1	chr16:30213540-30213811	HepG2	liver:	n/a	n/a
46	HEY1	chr16:30214418-30216873	HepG2	liver:	n/a	n/a
47	HEY1	chr16:30210165-30212502	HepG2	liver:	n/a	n/a
48	HEY1	chr16:30207825-30209240	HepG2	liver:	n/a	n/a
49	HEY1	chr16:30214048-30214401	HepG2	liver:	n/a	n/a
50	HEY1	chr16:30211875-30212109	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30209202-30209252	PFSK-1	brain:	n/a
2	chr16:30209202-30209252	HEK293	kidney:	embryo
3	chr16:30209202-30209252	AG04450	lung:	fetal
4	chr16:30209202-30209252	NH-A	brain:	n/a
5	chr16:30209202-30209252	HL-60	blood:	n/a
6	chr16:30209202-30209252	GM19239	blood:	n/a
7	chr16:30209202-30209252	Hepatocyte	liver:	n/a
8	chr16:30209202-30209252	HRPEpiC	eye:	n/a
9	chr16:30209202-30209252	GM12892	blood:	n/a
10	chr16:30209202-30209252	H1-hESC	embryonic stem cell:	embryo
11	chr16:30209202-30209252	HRE	kidney:	n/a
12	chr16:30209202-30209252	HepG2	liver:	n/a
13	chr16:30209202-30209252	Caco-2	colon:	n/a
14	chr16:30209202-30209252	BE2_C	brain:	n/a
15	chr16:30209202-30209252	AG04449	skin:	fetal
16	chr16:30209202-30209252	HPAEpiC	pulmonary alveolar:	n/a
17	chr16:30209202-30209252	MCF10A-Er-Src	breast:	n/a
18	chr16:30209202-30209252	HCT-116	colon:	n/a
19	chr16:30209202-30209252	U87	brain:	n/a
20	chr16:30209202-30209252	AG09309	skin:	n/a
21	chr16:30209202-30209252	NHDF-neo	bronchial:	n/a
22	chr16:30209202-30209252	HMEC	breast:	n/a
23	chr16:30209202-30209252	GM12878	blood:	n/a
24	chr16:30209202-30209252	IMR90	lung:	fetal
25	chr16:30209202-30209252	PANC-1	pancreas:	n/a
26	chr16:30209202-30209252	AG10803	skin:	n/a
27	chr16:30209202-30209252	HCM	heart:	n/a
28	chr16:30209202-30209252	SK-N-SH	brain:	n/a
29	chr16:30209202-30209252	ProgFib	skin:	n/a
30	chr16:30209202-30209252	NHBE	bronchial:	n/a
31	chr16:30209202-30209252	T-47D	breast:	n/a
32	chr16:30209202-30209252	HEEpiC	esophagus:	n/a
33	chr16:30209202-30209252	HCF	heart:	n/a
34	chr16:30209202-30209252	A549	lung:	n/a
35	chr16:30209202-30209252	SK-N-SH_RA	brain:	n/a
36	chr16:30209202-30209252	SKMC	muscle:	n/a
37	chr16:30209202-30209252	ECC-1	luminal epithelium:	n/a
38	chr16:30209202-30209252	AG09319	gingival:	n/a
39	chr16:30209202-30209252	SAEC	small airway:	n/a
40	chr16:30209202-30209252	LNCaP	prostate:	n/a
41	chr16:30209202-30209252	CMK	blood:	n/a
42	chr16:30209202-30209252	NT2-D1	testis:	n/a
43	chr16:30209202-30209252	HRCEpiC	kidney:	n/a
44	chr16:30209202-30209252	HCPEpiC	choroid plexus:	n/a
45	chr16:30209202-30209252	HAEpiC	amniotic membrane:	n/a
46	chr16:30209202-30209252	GM06990	blood:	n/a
47	chr16:30209202-30209252	NB4	blood:	n/a
48	chr16:30209202-30209252	ovcar-3	ovarian:	n/a
49	chr16:30209202-30209252	GM12891	blood:	n/a
50	chr16:30209202-30209252	AoSMC	blood vessel:	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BOLA2B-2	chr16:30215638-30216007	NONHSAT141724
2	lnc-SULT1A3.1-1	chr16:30214329-30214825	NONHSAT141723
3	lnc-SULT1A3.1-1	chr16:30207979-30208422	NONHSAT141721
4	lnc-SULT1A3.1-1	chr16:30208591-30208724	NONHSAT141721
5	lnc-SULT1A3.1-1	chr16:30208758-30208851	NONHSAT141720
6	lnc-SULT1A3.1-1	chr16:30207633-30208678	NONHSAT141720

No data

Variant related genes	Relation type
BOLA2B	TF binding region
SULT1A3	TF binding region
SLX1A	TF binding region
SLX1A-SULT1A3	TF binding region
BOLA2B	CpG island
SULT1A3	CpG island
SLX1A	CpG island
SLX1A-SULT1A3	CpG island

Extended variants
information (count: 44 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142135049	chr16:30206826-30206827	Weak transcription	TF binding region	4 gene(s)	Overlapped CNVs	n/a
2	rs368276461	chr16:30207618-30207619	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
3	rs112165087	chr16:30207777-30207778	Weak transcription	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs546685565	chr16:30208213-30208214	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs571596876	chr16:30208320-30208321	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs561116066	chr16:30208338-30208339	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs538991046	chr16:30208518-30208519	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs2304623	chr16:30208521-30208522	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs45583938	chr16:30208527-30208528	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs557119859	chr16:30208550-30208551	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs199857631	chr16:30208575-30208576	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs201044062	chr16:30208618-30208619	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs202214781	chr16:30208629-30208630	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs142024916	chr16:30208637-30208638	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs569077618	chr16:30208697-30208698	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs536470602	chr16:30208762-30208763	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs555395758	chr16:30208814-30208815	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs368887437	chr16:30208958-30208959	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs80224469	chr16:30209233-30209234	Weak transcription	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
20	rs573665021	chr16:30209237-30209238	Weak transcription	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
21	rs79070527	chr16:30209530-30209531	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs541013055	chr16:30211887-30211888	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs371560738	chr16:30211957-30211958	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs151163643	chr16:30211975-30211976	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs553050853	chr16:30212101-30212102	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs577982762	chr16:30212223-30212224	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs545355986	chr16:30212542-30212543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370051437	chr16:30212776-30212777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563589661	chr16:30212839-30212840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530694556	chr16:30212900-30212901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561391603	chr16:30212901-30212902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528615885	chr16:30212902-30212903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546967167	chr16:30212916-30212917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571332999	chr16:30212941-30212942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532388992	chr16:30212983-30212984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540306192	chr16:30213019-30213020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140113532	chr16:30213032-30213033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372875504	chr16:30213100-30213101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569213725	chr16:30213159-30213160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112327790	chr16:30213175-30213176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536815344	chr16:30215169-30215170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548541512	chr16:30215187-30215188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567352508	chr16:30215591-30215592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76641670	chr16:30215621-30215622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Schizophrenia	21346763	CNVD
autism	21731881	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30199800-30208400	Weak transcription	Primary B cells from cord blood	blood
2	chr16:30199800-30208400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr16:30199800-30217200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr16:30199800-30217200	Weak transcription	Placenta	Placenta
5	chr16:30199800-30217200	Weak transcription	Fetal Stomach	stomach
6	chr16:30200000-30217200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr16:30206200-30208000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:30206200-30208200	Weak transcription	Colonic Mucosa	Colon
9	chr16:30206200-30208400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr16:30206200-30217200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:30206200-30217200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr16:30206200-30217200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:30206200-30217200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:30206200-30217200	Weak transcription	Fetal Intestine Large	intestine
15	chr16:30206200-30217200	Weak transcription	Fetal Intestine Small	intestine
16	chr16:30206200-30217200	Weak transcription	Fetal Thymus	thymus
17	chr16:30208400-30208600	Enhancers	Primary B cells from cord blood	blood
18	chr16:30208400-30208600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr16:30208400-30208600	Enhancers	Colonic Mucosa	Colon
20	chr16:30208400-30208600	Enhancers	Monocytes-CD14+_RO01746	blood

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