Variant report

Variant	nsv572388
Chromosome Location	chr16:34855095-34946088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:142)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:142 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr16:34894940-34895190	GM12878	blood:	n/a	chr16:34895069-34895080
2	BATF	chr16:34894892-34895125	GM12878	blood:	n/a	chr16:34895069-34895080
3	BCL3	chr16:34894998-34895220	GM12878	blood:	n/a	n/a
4	CEBPB	chr16:34868816-34869034	IMR90	lung:	n/a	chr16:34868959-34868970
5	CEBPB	chr16:34944785-34945077	IMR90	lung:	n/a	chr16:34944902-34944913
6	CEBPB	chr16:34868827-34869080	HepG2	liver:	n/a	chr16:34868959-34868970
7	CEBPB	chr16:34870929-34871147	HepG2	liver:	n/a	chr16:34871070-34871081
8	CEBPB	chr16:34944778-34945011	HepG2	liver:	n/a	chr16:34944902-34944913
9	CTCF	chr16:34857655-34857672	GM13976	blood:	n/a	n/a
10	CTCF	chr16:34860680-34860830	RPTEC	kidney:	n/a	n/a
11	CTCF	chr16:34860720-34860870	GM12873	blood:	n/a	n/a
12	CTCF	chr16:34860700-34860850	RPTEC	kidney:	n/a	n/a
13	CTCF	chr16:34860640-34860790	HEK293	kidney:	n/a	n/a
14	CTCF	chr16:34860620-34860770	NHEK	skin:	n/a	n/a
15	CTCF	chr16:34860640-34860790	HRE	kidney:	n/a	n/a
16	CTCF	chr16:34860660-34860810	HCT-116	colon:	n/a	n/a
17	CTCF	chr16:34860700-34860850	HEK293	kidney:	n/a	n/a
18	CTCF	chr16:34901203-34901328	GM20000	blood:	n/a	n/a
19	CTCF	chr16:34863326-34863418	Lung_OC	lung:	n/a	n/a
20	CTCF	chr16:34906787-34906829	Medullo	brain:	n/a	n/a
21	CUX1	chr16:34892473-34892650	GM12878	blood:	n/a	n/a
22	E2F4	chr16:34912816-34912995	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr16:34931027-34931175	MCF10A-Er-Src	breast:	n/a	n/a
24	EBF1	chr16:34892380-34892716	GM12878	blood:	n/a	n/a
25	EBF1	chr16:34894512-34895125	GM12878	blood:	n/a	n/a
26	EBF1	chr16:34890284-34890581	GM12878	blood:	n/a	chr16:34890409-34890420
27	EBF1	chr16:34938061-34938139	GM12878	blood:	n/a	n/a
28	EBF1	chr16:34864031-34864366	GM12878	blood:	n/a	n/a
29	EBF1	chr16:34890285-34890487	GM12878	blood:	n/a	chr16:34890409-34890420
30	EP300	chr16:34876025-34876439	MCF-7	breast:	n/a	n/a
31	EP300	chr16:34894868-34895224	GM12878	blood:	n/a	n/a
32	EP300	chr16:34927030-34927680	ECC-1	luminal epithelium:	n/a	n/a
33	EP300	chr16:34921952-34923227	ECC-1	luminal epithelium:	n/a	n/a
34	EP300	chr16:34919125-34919718	ECC-1	luminal epithelium:	n/a	n/a
35	EP300	chr16:34926466-34927854	ECC-1	luminal epithelium:	n/a	n/a
36	EP300	chr16:34922429-34923041	ECC-1	luminal epithelium:	n/a	n/a
37	EP300	chr16:34894956-34895197	GM12878	blood:	n/a	n/a
38	EP300	chr16:34920811-34921277	ECC-1	luminal epithelium:	n/a	n/a
39	EP300	chr16:34895011-34895262	GM12878	blood:	n/a	n/a
40	EP300	chr16:34878984-34879081	GM12878	blood:	n/a	n/a
41	ESR1	chr16:34927008-34927762	ECC-1	luminal epithelium:	n/a	n/a
42	ESR1	chr16:34922179-34923081	ECC-1	luminal epithelium:	n/a	n/a
43	ESR1	chr16:34927345-34927759	ECC-1	luminal epithelium:	n/a	n/a
44	ESR1	chr16:34927114-34927737	ECC-1	luminal epithelium:	n/a	n/a
45	ESR1	chr16:34926204-34926980	ECC-1	luminal epithelium:	n/a	n/a
46	ESR1	chr16:34927112-34927766	ECC-1	luminal epithelium:	n/a	n/a
47	ESR1	chr16:34922319-34923034	ECC-1	luminal epithelium:	n/a	n/a
48	ESR1	chr16:34921900-34923025	ECC-1	luminal epithelium:	n/a	n/a
49	ESR1	chr16:34926260-34927005	ECC-1	luminal epithelium:	n/a	n/a
50	ESR1	chr16:34919239-34919496	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:34815137..34816427-chr16:34875759..34876664,4	MCF-7	breast:
2	chr16:34815853..34816462-chr16:34876054..34876591,2	MCF-7	breast:
3	chr16:34799028..34799683-chr16:34875753..34876623,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2144E22.5.1-8	chr16:34874400-34874953	ENSG00000259791.1

No data

Variant related genes	Relation type
ENSG00000260746	TF binding region
ENSG00000259791	TF binding region

Extended variants
information (count: 2017 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2017 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113624903	chr16:34862809-34862810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541661477	chr16:34862825-34862826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562763542	chr16:34862865-34862866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192181665	chr16:34862917-34862918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140235007	chr16:34862974-34862975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547955364	chr16:34863000-34863001	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552085849	chr16:34863002-34863003	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184324160	chr16:34863017-34863018	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561637834	chr16:34863018-34863019	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549434186	chr16:34863053-34863054	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568073278	chr16:34863085-34863086	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2196106	chr16:34863136-34863137	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs374859255	chr16:34863146-34863147	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150286085	chr16:34863184-34863185	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567096339	chr16:34863187-34863188	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78946164	chr16:34863191-34863192	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559320826	chr16:34863246-34863247	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577275491	chr16:34863275-34863276	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538252515	chr16:34863291-34863292	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552870803	chr16:34863303-34863304	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556646507	chr16:34863331-34863332	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574833019	chr16:34863343-34863344	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542347364	chr16:34863384-34863385	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560071494	chr16:34863386-34863387	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187135337	chr16:34863462-34863463	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545662161	chr16:34863468-34863469	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564057644	chr16:34863474-34863475	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117469343	chr16:34863480-34863481	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534853736	chr16:34863517-34863518	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549371387	chr16:34863526-34863527	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369785409	chr16:34863572-34863573	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561771567	chr16:34863573-34863574	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546360748	chr16:34863575-34863576	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs137910442	chr16:34863597-34863598	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192260942	chr16:34863604-34863605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149211466	chr16:34863637-34863638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534416029	chr16:34863638-34863639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146909287	chr16:34863761-34863762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571164163	chr16:34863762-34863763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538583889	chr16:34863835-34863836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556587663	chr16:34863839-34863840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139389081	chr16:34863847-34863848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527570667	chr16:34863851-34863852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184465844	chr16:34863873-34863874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188926807	chr16:34863874-34863875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182472168	chr16:34863912-34863913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545605042	chr16:34863917-34863918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143188027	chr16:34863931-34863932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575930980	chr16:34863961-34863962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147522724	chr16:34864029-34864030	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21785460	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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34862800-34868000	Enhancers	Dnd41	blood
2	chr16:34863000-34863600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr16:34868000-34870800	Weak transcription	Dnd41	blood
4	chr16:34870800-34872800	Enhancers	Dnd41	blood
5	chr16:34871400-34880000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:34873800-34874400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr16:34873800-34874400	Enhancers	NHEK	skin
8	chr16:34875600-34877600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:34879000-34879600	Active TSS	Fetal Heart	heart
10	chr16:34885600-34886600	Enhancers	Dnd41	blood
11	chr16:34886800-34888400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:34897400-34898200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:34905600-34905800	ZNF genes & repeats	Psoas Muscle	Psoas
14	chr16:34909200-34909800	Active TSS	Fetal Heart	heart
15	chr16:34910800-34916200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:34919200-34927600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:34920600-34921000	Enhancers	Left Ventricle	heart
18	chr16:34920600-34921600	Enhancers	Right Atrium	heart
19	chr16:34928200-34929800	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr16:34935600-34937200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr16:34938200-34939400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:34943800-34944200	Active TSS	Fetal Heart	heart
23	chr16:34944200-34946000	Weak transcription	Fetal Heart	heart
24	chr16:34945200-34947600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr16:34945400-34946800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr16:34945600-34946200	Enhancers	Left Ventricle	heart
27	chr16:34945600-34946200	Enhancers	Right Atrium	heart
28	chr16:34946000-34946400	Active TSS	Fetal Heart	heart

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