Variant report

Variant	nsv511567
Chromosome Location	chr16:35111521-35192329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:166)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:166 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:35138106-35138159	HepG2	liver:	n/a	n/a
2	CEBPB	chr16:35155377-35155495	HepG2	liver:	n/a	chr16:35155465-35155476
3	CEBPB	chr16:35183614-35183800	HepG2	liver:	n/a	chr16:35183764-35183775
4	CEBPB	chr16:35176290-35176458	A549	lung:	n/a	chr16:35176356-35176367
5	CEBPB	chr16:35176237-35176508	HepG2	liver:	n/a	chr16:35176356-35176367
6	CEBPB	chr16:35172122-35172416	HepG2	liver:	n/a	chr16:35172261-35172272
7	CEBPB	chr16:35172127-35172413	A549	lung:	n/a	chr16:35172261-35172272
8	CEBPB	chr16:35161862-35162181	HepG2	liver:	n/a	chr16:35161995-35162006
9	CEBPB	chr16:35161877-35162150	IMR90	lung:	n/a	chr16:35161995-35162006
10	CEBPB	chr16:35183747-35183813	IMR90	lung:	n/a	chr16:35183764-35183775
11	CEBPB	chr16:35161867-35162112	A549	lung:	n/a	chr16:35161995-35162006
12	CTCF	chr16:35143492-35143562	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr16:35143376-35143629	LNCaP	prostate:	n/a	n/a
14	CTCF	chr16:35143440-35143613	NHEK	skin:	n/a	n/a
15	CTCF	chr16:35143460-35143610	HMF	breast:	n/a	n/a
16	CTCF	chr16:35143400-35143550	GM12864	blood:	n/a	n/a
17	CTCF	chr16:35143360-35143510	HMF	breast:	n/a	n/a
18	CTCF	chr16:35143460-35143610	GM12870	blood:	n/a	n/a
19	CTCF	chr16:35143520-35143670	GM12875	blood:	n/a	n/a
20	CTCF	chr16:35143460-35143610	NB4	blood:	n/a	n/a
21	CTCF	chr16:35143400-35143550	GM12873	blood:	n/a	n/a
22	CTCF	chr16:35143460-35143610	MCF-7	breast:	n/a	n/a
23	CTCF	chr16:35143440-35143590	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr16:35143409-35143623	Gliobla	brain:	n/a	n/a
25	CTCF	chr16:35143440-35143590	HMEC	breast:	n/a	n/a
26	CTCF	chr16:35143387-35143621	LNCaP	prostate:	n/a	n/a
27	CTCF	chr16:35143440-35143590	GM12872	blood:	n/a	n/a
28	CTCF	chr16:35143460-35143610	GM12872	blood:	n/a	n/a
29	CTCF	chr16:35143506-35143572	A549	lung:	n/a	n/a
30	CTCF	chr16:35143420-35143570	RPTEC	kidney:	n/a	n/a
31	CTCF	chr16:35143442-35143583	MCF-7	breast:	n/a	n/a
32	CTCF	chr16:35143440-35143590	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr16:35143480-35143630	HCFaa	heart:	n/a	n/a
34	CTCF	chr16:35143467-35143530	GM20000	blood:	n/a	n/a
35	CTCF	chr16:35140718-35140742	GM13976	blood:	n/a	n/a
36	CTCF	chr16:35143560-35143710	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr16:35135074-35135181	Gliobla	brain:	n/a	n/a
38	CTCF	chr16:35143456-35143565	ProgFib	skin:	n/a	n/a
39	CTCF	chr16:35143440-35143590	HL-60	blood:	n/a	n/a
40	CTCF	chr16:35143340-35143490	GM06990	blood:	n/a	n/a
41	CTCF	chr16:35143440-35143590	HEK293	kidney:	n/a	n/a
42	CTCF	chr16:35143419-35143584	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr16:35143440-35143590	NHEK	skin:	n/a	n/a
44	CTCF	chr16:35143454-35143564	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr16:35143447-35143618	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr16:35143460-35143610	GM12874	blood:	n/a	n/a
47	CTCF	chr16:35143440-35143590	K562	blood:	n/a	n/a
48	CTCF	chr16:35143453-35143568	HepG2	liver:	n/a	n/a
49	CTCF	chr16:35143400-35143550	GM12870	blood:	n/a	n/a
50	CTCF	chr16:35143480-35143630	HRE	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:35133889..35136586-chr16:35136893..35138863,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2144E22.5.1-36	chr16:35146491-35146887	NONHSAT142249
2	lnc-LINC00273-33	chr16:35113407-35113869	NONHSAT142247

No data

Variant related genes	Relation type
ENSG00000221580	TF binding region
ENSG00000261782	TF binding region
PPP1R1AP2	TF binding region
ENSG00000221580	chromatin interactions

Extended variants
information (count: 1497 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1497 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557522514	chr16:35113442-35113443	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs373329350	chr16:35113447-35113448	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs569061666	chr16:35113449-35113450	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs142447189	chr16:35113466-35113467	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs60570940	chr16:35113479-35113480	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs554815327	chr16:35113485-35113486	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs186002270	chr16:35113505-35113506	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs540181510	chr16:35113533-35113534	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs150548529	chr16:35113556-35113557	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs191211852	chr16:35113563-35113564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs543896029	chr16:35113566-35113567	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs562289628	chr16:35113570-35113571	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs529743967	chr16:35113583-35113584	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs374610681	chr16:35113593-35113594	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs542772259	chr16:35113598-35113599	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs561161771	chr16:35113685-35113686	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs553177834	chr16:35113697-35113698	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs183334600	chr16:35113708-35113709	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs80335513	chr16:35113729-35113730	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs200728547	chr16:35113752-35113753	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs532440782	chr16:35113756-35113757	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs377455898	chr16:35113768-35113769	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs200191956	chr16:35113771-35113772	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs138358718	chr16:35113772-35113773	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs551088918	chr16:35113776-35113777	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs569325259	chr16:35113789-35113790	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs536761178	chr16:35113794-35113795	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs149248818	chr16:35113800-35113801	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs566579947	chr16:35113801-35113802	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs534079288	chr16:35113808-35113809	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs558621426	chr16:35113866-35113867	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs8059838	chr16:35113929-35113930	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375101403	chr16:35113935-35113936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs561509315	chr16:35113943-35113944	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs528710861	chr16:35113944-35113945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs540910678	chr16:35113950-35113951	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs565483504	chr16:35113951-35113952	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs557126517	chr16:35113962-35113963	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs182672656	chr16:35114424-35114425	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs188120564	chr16:35114428-35114429	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs142300283	chr16:35114435-35114436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs377743383	chr16:35114455-35114456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs544951598	chr16:35114500-35114501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs1448048	chr16:35114590-35114591	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs530159555	chr16:35114605-35114606	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs370900524	chr16:35114652-35114653	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs548659757	chr16:35114653-35114654	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs560339895	chr16:35114689-35114690	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs374235325	chr16:35114706-35114707	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs573440712	chr16:35114764-35114765	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
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
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Disorders of sex development	21048976	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medulloblastoma	21163964	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35125400-35132400	Weak transcription	Stomach Mucosa	stomach
2	chr16:35128400-35128600	Enhancers	Duodenum Mucosa	Duodenum
3	chr16:35128400-35128800	Enhancers	Gastric	stomach
4	chr16:35128400-35129000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:35132400-35132600	Enhancers	Stomach Mucosa	stomach
6	chr16:35132600-35132800	ZNF genes & repeats	Fetal Brain Female	brain
7	chr16:35138000-35138400	Active TSS	Fetal Heart	heart
8	chr16:35139800-35148400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:35144400-35144600	Enhancers	Dnd41	blood
10	chr16:35144600-35145000	Flanking Active TSS	Dnd41	blood
11	chr16:35145000-35145800	ZNF genes & repeats	Dnd41	blood
12	chr16:35161600-35162200	ZNF genes & repeats	Dnd41	blood
13	chr16:35164600-35171800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:35167600-35170000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr16:35175400-35176200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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