Variant report

Variant	nsv520998
Chromosome Location	chr16:58807542-58834219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:58826019-58826844	K562	blood:	n/a	n/a
2	ARID3A	chr16:58807562-58808192	HepG2	liver:	n/a	n/a
3	ATF1	chr16:58826146-58826466	K562	blood:	n/a	n/a
4	ATF3	chr16:58826052-58826399	K562	blood:	n/a	n/a
5	BHLHE40	chr16:58807890-58808029	HepG2	liver:	n/a	n/a
6	BHLHE40	chr16:58826229-58826436	K562	blood:	n/a	n/a
7	BHLHE40	chr16:58831450-58831504	GM12878	blood:	n/a	n/a
8	CBX3	chr16:58826095-58826481	K562	blood:	n/a	n/a
9	CCNT2	chr16:58826157-58826487	K562	blood:	n/a	n/a
10	CEBPB	chr16:58826099-58826489	K562	blood:	n/a	n/a
11	CEBPB	chr16:58823286-58823632	K562	blood:	n/a	chr16:58823477-58823488
12	CEBPB	chr16:58823456-58823526	A549	lung:	n/a	chr16:58823477-58823488
13	CEBPB	chr16:58807843-58808104	HepG2	liver:	n/a	n/a
14	CEBPB	chr16:58823402-58823607	HepG2	liver:	n/a	chr16:58823477-58823488
15	CEBPB	chr16:58807774-58808148	HepG2	liver:	n/a	n/a
16	CEBPB	chr16:58826072-58826485	K562	blood:	n/a	n/a
17	CEBPD	chr16:58826069-58826578	K562	blood:	n/a	chr16:58826229-58826240
18	CEBPD	chr16:58826105-58826607	K562	blood:	n/a	chr16:58826229-58826240
19	CUX1	chr16:58826223-58826469	K562	blood:	n/a	n/a
20	CUX1	chr16:58831402-58831631	GM12878	blood:	n/a	n/a
21	EP300	chr16:58807883-58808112	HepG2	liver:	n/a	n/a
22	EP300	chr16:58825914-58826636	K562	blood:	n/a	chr16:58826230-58826238
23	EP300	chr16:58807726-58808089	HepG2	liver:	n/a	n/a
24	EP300	chr16:58807817-58808111	HepG2	liver:	n/a	n/a
25	EP300	chr16:58826141-58826485	K562	blood:	n/a	chr16:58826230-58826238
26	FOS	chr16:58825229-58825302	MCF10A-Er-Src	breast:	n/a	n/a
27	FOXA1	chr16:58830335-58830492	T-47D	breast:	n/a	n/a
28	FOXA1	chr16:58807766-58808063	A549	lung:	n/a	n/a
29	FOXA1	chr16:58807646-58808204	HepG2	liver:	n/a	n/a
30	FOXA1	chr16:58807786-58808143	HepG2	liver:	n/a	n/a
31	FOXA1	chr16:58807766-58808240	HepG2	liver:	n/a	n/a
32	FOXA1	chr16:58807629-58808245	HepG2	liver:	n/a	n/a
33	FOXA2	chr16:58807787-58808121	HepG2	liver:	n/a	n/a
34	FOXA2	chr16:58807266-58808411	HepG2	liver:	n/a	n/a
35	FOXA2	chr16:58807825-58808121	A549	lung:	n/a	n/a
36	GABPA	chr16:58826218-58826485	K562	blood:	n/a	n/a
37	GATA1	chr16:58825703-58826754	PBDE	blood:	n/a	chr16:58826002-58826012 chr16:58826271-58826279 chr16:58826002-58826011 chr16:58826377-58826388
38	GATA1	chr16:58825916-58826450	PBDEFetal	blood:	n/a	chr16:58826002-58826012 chr16:58826271-58826279 chr16:58826002-58826011 chr16:58826377-58826388
39	GATA1	chr16:58826070-58827205	K562	blood:	n/a	chr16:58826271-58826279 chr16:58826377-58826388
40	GATA2	chr16:58826087-58826568	K562	blood:	n/a	chr16:58826271-58826279 chr16:58826377-58826388
41	GATA2	chr16:58826124-58826484	K562	blood:	n/a	chr16:58826271-58826279 chr16:58826377-58826388
42	GTF2F1	chr16:58825870-58825908	K562	blood:	n/a	n/a
43	HCFC1	chr16:58826311-58826334	K562	blood:	n/a	n/a
44	HDAC2	chr16:58807745-58808111	HepG2	liver:	n/a	n/a
45	HDAC2	chr16:58826227-58826403	K562	blood:	n/a	chr16:58826363-58826377 chr16:58826359-58826373
46	HDAC2	chr16:58807809-58808062	HepG2	liver:	n/a	n/a
47	HEY1	chr16:58824151-58824328	HepG2	liver:	n/a	n/a
48	HEY1	chr16:58824184-58824437	HepG2	liver:	n/a	n/a
49	HNF4A	chr16:58807815-58808046	HepG2	liver:	n/a	n/a
50	HNF4A	chr16:58807848-58808146	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:58824854-58824904	HUVEC	blood vessel:	n/a
2	chr16:58824854-58824904	NB4	blood:	n/a
3	chr16:58824854-58824904	GM12891	blood:	n/a
4	chr16:58824960-58825010	HMEC	breast:	n/a
5	chr16:58824854-58824904	IMR90	lung:	fetal
6	chr16:58824854-58824904	MCF-7	breast:	n/a
7	chr16:58824960-58825010	AG10803	skin:	n/a
8	chr16:58824854-58824904	K562	blood:	n/a
9	chr16:58824854-58824904	RPTEC	kidney:	n/a
10	chr16:58824854-58824904	HCM	heart:	n/a
11	chr16:58824854-58824904	SK-N-SH	brain:	n/a
12	chr16:58824854-58824904	HIPEpiC	eye:	n/a
13	chr16:58824854-58824904	HRE	kidney:	n/a
14	chr16:58824960-58825010	SK-N-SH	brain:	n/a
15	chr16:58824960-58825010	HAEpiC	amniotic membrane:	n/a
16	chr16:58824960-58825010	H1-hESC	embryonic stem cell:	embryo
17	chr16:58824960-58825010	HepG2	liver:	n/a
18	chr16:58824960-58825010	HCPEpiC	choroid plexus:	n/a
19	chr16:58824854-58824904	AoSMC	blood vessel:	n/a
20	chr16:58824960-58825010	AG04449	skin:	fetal
21	chr16:58824960-58825010	AoSMC	blood vessel:	n/a
22	chr16:58824960-58825010	U87	brain:	n/a
23	chr16:58824960-58825010	AG04450	lung:	fetal
24	chr16:58824960-58825010	HIPEpiC	eye:	n/a
25	chr16:58824960-58825010	MCF-7	breast:	n/a
26	chr16:58824854-58824904	HMEC	breast:	n/a
27	chr16:58824960-58825010	HEK293	kidney:	embryo
28	chr16:58824854-58824904	SKMC	muscle:	n/a
29	chr16:58824960-58825010	GM06990	blood:	n/a
30	chr16:58824960-58825010	HL-60	blood:	n/a
31	chr16:58824960-58825010	GM12891	blood:	n/a
32	chr16:58824960-58825010	HNPCEpiC	eye:	n/a
33	chr16:58824854-58824904	T-47D	breast:	n/a
34	chr16:58824960-58825010	RPTEC	kidney:	n/a
35	chr16:58824960-58825010	HRPEpiC	eye:	n/a
36	chr16:58824960-58825010	PrEC	prostate:	n/a
37	chr16:58824960-58825010	HUVEC	blood vessel:	n/a
38	chr16:58824960-58825010	HRE	kidney:	n/a
39	chr16:58824854-58824904	AG09319	gingival:	n/a
40	chr16:58824960-58825010	Caco-2	colon:	n/a
41	chr16:58824960-58825010	GM12892	blood:	n/a
42	chr16:58824960-58825010	A549	lung:	n/a
43	chr16:58824960-58825010	BJ	skin:	n/a
44	chr16:58824854-58824904	H1-hESC	embryonic stem cell:	embryo
45	chr16:58824960-58825010	HCM	heart:	n/a
46	chr16:58824854-58824904	LNCaP	prostate:	n/a
47	chr16:58824960-58825010	K562	blood:	n/a
48	chr16:58824854-58824904	ovcar-3	ovarian:	n/a
49	chr16:58824960-58825010	HCT-116	colon:	n/a
50	chr16:58824854-58824904	GM12878	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:58826863..58829258-chr16:58899409..58901725,2	K562	blood:

No data

Variant related genes	Relation type
GEMIN8P2	TF binding region
GEMIN8P2	CpG island

Extended variants
information (count: 483 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6499977	chr16:58807542-58807543	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143579124	chr16:58807546-58807547	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs544982941	chr16:58807565-58807566	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs544894162	chr16:58807570-58807571	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs58984069	chr16:58807583-58807584	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs560244343	chr16:58807584-58807585	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs548973865	chr16:58807597-58807598	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs534692789	chr16:58807639-58807640	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs572191242	chr16:58807671-58807672	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs542731141	chr16:58807716-58807717	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs79068816	chr16:58807739-58807740	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs6499978	chr16:58807766-58807767	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10694862	chr16:58807870-58807871	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs34769396	chr16:58807871-58807872	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs200205979	chr16:58807872-58807873	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs10655656	chr16:58807873-58807874	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs8046154	chr16:58807882-58807883	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs533628076	chr16:58807951-58807952	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs34019929	chr16:58807952-58807953	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs146775343	chr16:58807959-58807960	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs575094072	chr16:58808008-58808009	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs8045828	chr16:58808019-58808020	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs564025012	chr16:58808027-58808028	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs114385637	chr16:58808040-58808041	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs560052211	chr16:58808051-58808052	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs567044064	chr16:58808052-58808053	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs528941562	chr16:58808085-58808086	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs372936864	chr16:58808097-58808098	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs8051078	chr16:58808104-58808105	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs184044607	chr16:58808135-58808136	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs558233453	chr16:58808176-58808177	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs576316072	chr16:58808182-58808183	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs145861257	chr16:58808209-58808210	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs369281307	chr16:58808227-58808228	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs571031479	chr16:58808230-58808231	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs535344515	chr16:58808249-58808250	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs188798899	chr16:58808267-58808268	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs537467515	chr16:58808287-58808288	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs145370007	chr16:58808298-58808299	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs549042460	chr16:58808325-58808326	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs535527352	chr16:58808331-58808332	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs557025980	chr16:58808347-58808348	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs72292989	chr16:58808387-58808388	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs370234998	chr16:58808403-58808404	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs149185361	chr16:58808407-58808408	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs193034180	chr16:58808447-58808448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184392453	chr16:58808456-58808457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573018645	chr16:58808472-58808473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540530472	chr16:58808473-58808474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561479066	chr16:58808502-58808503	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20972252	CNVD
Invasive breast cancer	20972252	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58806600-58808400	Enhancers	Liver	Liver
2	chr16:58807600-58808600	Enhancers	HepG2	liver
3	chr16:58807800-58808200	Enhancers	A549	lung
4	chr16:58819200-58820400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:58822600-58823600	Enhancers	K562	blood
6	chr16:58823600-58825400	Weak transcription	K562	blood
7	chr16:58824800-58825800	Enhancers	Right Ventricle	heart
8	chr16:58825400-58825600	Enhancers	K562	blood
9	chr16:58825600-58826200	Flanking Active TSS	K562	blood
10	chr16:58825600-58826400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr16:58825600-58827400	Enhancers	Fetal Heart	heart
12	chr16:58825800-58826200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr16:58825800-58826200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr16:58825800-58826200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr16:58825800-58826400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr16:58826000-58826600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr16:58826200-58826600	Active TSS	K562	blood
18	chr16:58826200-58826800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:58826200-58827200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr16:58826600-58827200	Flanking Active TSS	K562	blood
21	chr16:58826800-58827800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:58827000-58827400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr16:58827000-58827400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr16:58827200-58827400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr16:58827200-58828400	Enhancers	K562	blood
26	chr16:58827800-58828200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:58828400-58830200	Weak transcription	K562	blood
28	chr16:58830200-58830400	Enhancers	Lung	lung
29	chr16:58830200-58830600	Enhancers	K562	blood
30	chr16:58831200-58831600	Enhancers	GM12878-XiMat	blood

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