Variant report

Variant	nsv978146
Chromosome Location	chr16:35029408-35039150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:35038916-35039001	Pancreas_OC	pancreas:	n/a	n/a
2	CTCF	chr16:35038644-35038686	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr16:35038420-35038454	GM10248	blood:	n/a	n/a
4	EBF1	chr16:35039010-35039215	GM12878	blood:	n/a	n/a
5	EP300	chr16:35033183-35033854	ECC-1	luminal epithelium:	n/a	n/a
6	EP300	chr16:35033163-35033720	ECC-1	luminal epithelium:	n/a	n/a
7	FOXA1	chr16:35032164-35032530	HepG2	liver:	n/a	n/a
8	FOXA1	chr16:35032147-35032493	T-47D	breast:	n/a	n/a
9	FOXA1	chr16:35032215-35032508	T-47D	breast:	n/a	n/a
10	FOXA1	chr16:35032183-35032415	ECC-1	luminal epithelium:	n/a	n/a
11	FOXA1	chr16:35032208-35032455	HepG2	liver:	n/a	n/a
12	FOXA1	chr16:35032168-35032519	HepG2	liver:	n/a	n/a
13	FOXA2	chr16:35032203-35032489	HepG2	liver:	n/a	n/a
14	FOXA2	chr16:35038584-35038851	A549	lung:	n/a	n/a
15	FOXM1	chr16:35033209-35033739	ECC-1	luminal epithelium:	n/a	n/a
16	KAP1	chr16:35032094-35032580	U2OS	brain:	n/a	n/a
17	MAFK	chr16:35039147-35039461	HepG2	liver:	n/a	chr16:35039283-35039299 chr16:35039284-35039298 chr16:35039287-35039297 chr16:35039281-35039301
18	MAX	chr16:35033149-35033900	ECC-1	luminal epithelium:	n/a	chr16:35033511-35033526
19	MAX	chr16:35033140-35033754	ECC-1	luminal epithelium:	n/a	chr16:35033511-35033526
20	MXI1	chr16:35029232-35030372	SK-N-SH	brain:	n/a	n/a
21	NFIC	chr16:35033037-35033885	ECC-1	luminal epithelium:	n/a	n/a
22	NFIC	chr16:35033036-35033919	ECC-1	luminal epithelium:	n/a	n/a
23	NRF1	chr16:35029714-35030290	SK-N-SH	brain:	n/a	chr16:35029981-35029992 chr16:35029981-35029990 chr16:35029983-35029992 chr16:35029981-35029995
24	NRF1	chr16:35029295-35029536	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr16:35036814-35036993	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr16:35029902-35030042	MCF-7	breast:	n/a	n/a
27	POLR2A	chr16:35029942-35030066	MCF-7	breast:	n/a	n/a
28	POLR2A	chr16:35036751-35037045	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:35029900-35029901	MCF-7	breast:	n/a	n/a
30	POLR2A	chr16:35038806-35038837	A549	lung:	n/a	n/a
31	POLR2A	chr16:35036713-35037045	GM12878	blood:	n/a	n/a
32	POLR2A	chr16:35036693-35037198	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr16:35033504-35033511	MCF-7	breast:	n/a	n/a
34	RAD21	chr16:35033172-35033656	ECC-1	luminal epithelium:	n/a	n/a
35	RUNX3	chr16:35038917-35039199	GM12878	blood:	n/a	n/a
36	SETDB1	chr16:35034513-35034870	U2OS	brain:	n/a	n/a
37	SRF	chr16:35033252-35033746	ECC-1	luminal epithelium:	n/a	n/a
38	TCF12	chr16:35033090-35033925	ECC-1	luminal epithelium:	n/a	n/a
39	TCF12	chr16:35033109-35033766	ECC-1	luminal epithelium:	n/a	n/a
40	TEAD4	chr16:35033193-35033720	ECC-1	luminal epithelium:	n/a	n/a
41	TEAD4	chr16:35033158-35033746	ECC-1	luminal epithelium:	n/a	n/a
42	USF1	chr16:35033206-35033801	ECC-1	luminal epithelium:	n/a	n/a
43	USF1	chr16:35033210-35033747	ECC-1	luminal epithelium:	n/a	n/a
44	WRNIP1	chr16:35029754-35029768	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:35037569-35037619	AG09319	gingival:	n/a
2	chr16:35037569-35037619	ProgFib	skin:	n/a
3	chr16:35030232-35030282	GM06990	blood:	n/a
4	chr16:35029997-35030047	SAEC	small airway:	n/a
5	chr16:35037569-35037619	HPAEpiC	pulmonary alveolar:	n/a
6	chr16:35030232-35030282	HRCEpiC	kidney:	n/a
7	chr16:35037569-35037619	AG04449	skin:	fetal
8	chr16:35037569-35037619	NB4	blood:	n/a
9	chr16:35029997-35030047	SK-N-SH	brain:	n/a
10	chr16:35037569-35037619	MCF-7	breast:	n/a
11	chr16:35037569-35037619	HIPEpiC	eye:	n/a
12	chr16:35037569-35037619	MCF10A-Er-Src	breast:	n/a
13	chr16:35037569-35037619	Hela-S3	cervix:	n/a
14	chr16:35029890-35029940	PFSK-1	brain:	n/a
15	chr16:35029997-35030047	Jurkat	blood:	n/a
16	chr16:35030232-35030282	HCT-116	colon:	n/a
17	chr16:35029890-35029940	HUVEC	blood vessel:	n/a
18	chr16:35029997-35030047	HEK293	kidney:	embryo
19	chr16:35029997-35030047	HEEpiC	esophagus:	n/a
20	chr16:35029997-35030047	HNPCEpiC	eye:	n/a
21	chr16:35030232-35030282	AG10803	skin:	n/a
22	chr16:35037569-35037619	HUVEC	blood vessel:	n/a
23	chr16:35037569-35037619	NHDF-neo	bronchial:	n/a
24	chr16:35029890-35029940	NB4	blood:	n/a
25	chr16:35029997-35030047	AG09309	skin:	n/a
26	chr16:35029890-35029940	GM06990	blood:	n/a
27	chr16:35037569-35037619	K562	blood:	n/a
28	chr16:35029890-35029940	Hepatocyte	liver:	n/a
29	chr16:35030232-35030282	HRE	kidney:	n/a
30	chr16:35029997-35030047	HPAEpiC	pulmonary alveolar:	n/a
31	chr16:35030232-35030282	HCM	heart:	n/a
32	chr16:35037569-35037619	SK-N-SH_RA	brain:	n/a
33	chr16:35029997-35030047	RPTEC	kidney:	n/a
34	chr16:35030232-35030282	AoSMC	blood vessel:	n/a
35	chr16:35029890-35029940	BJ	skin:	n/a
36	chr16:35029997-35030047	NHDF-neo	bronchial:	n/a
37	chr16:35029997-35030047	HCPEpiC	choroid plexus:	n/a
38	chr16:35029997-35030047	GM12891	blood:	n/a
39	chr16:35037569-35037619	LNCaP	prostate:	n/a
40	chr16:35029997-35030047	HCF	heart:	n/a
41	chr16:35037569-35037619	SAEC	small airway:	n/a
42	chr16:35037569-35037619	T-47D	breast:	n/a
43	chr16:35029997-35030047	HRCEpiC	kidney:	n/a
44	chr16:35029997-35030047	K562	blood:	n/a
45	chr16:35030232-35030282	NB4	blood:	n/a
46	chr16:35029890-35029940	HNPCEpiC	eye:	n/a
47	chr16:35030232-35030282	HCF	heart:	n/a
48	chr16:35030232-35030282	BE2_C	brain:	n/a
49	chr16:35029890-35029940	Jurkat	blood:	n/a
50	chr16:35029890-35029940	ECC-1	luminal epithelium:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LINC00273-31	chr16:35036459-35037041	NONHSAT142244

No data

Variant related genes	Relation type
HMGN2P41	TF binding region
HMGN2P41	CpG island

Extended variants
information (count: 403 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112038877	chr16:35029422-35029423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs140705531	chr16:35029442-35029443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs574893491	chr16:35029454-35029455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs541280025	chr16:35029475-35029476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs368127194	chr16:35029480-35029481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs368453671	chr16:35029500-35029501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs559630048	chr16:35029523-35029524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs143837081	chr16:35029527-35029528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs545431555	chr16:35029550-35029551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs73550120	chr16:35029557-35029558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs200417627	chr16:35029646-35029647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs184997318	chr16:35029652-35029653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs549222962	chr16:35029656-35029657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs540119445	chr16:35029690-35029691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs561034104	chr16:35029702-35029703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs34085008	chr16:35029722-35029723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs555167887	chr16:35029769-35029770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs35437864	chr16:35029807-35029808	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573774076	chr16:35029811-35029812	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528296541	chr16:35029831-35029832	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542400138	chr16:35029858-35029859	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560779098	chr16:35029891-35029892	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113203702	chr16:35029926-35029927	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571618735	chr16:35029934-35029935	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538237140	chr16:35029947-35029948	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550587193	chr16:35029948-35029949	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568777697	chr16:35029962-35029963	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150207430	chr16:35030019-35030020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs79039874	chr16:35030116-35030117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs374464384	chr16:35030131-35030132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs554247481	chr16:35030156-35030157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs573855188	chr16:35030179-35030180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs534927482	chr16:35030224-35030225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs553247894	chr16:35030232-35030233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs577945358	chr16:35030235-35030236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs545057506	chr16:35030243-35030244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs563663284	chr16:35030257-35030258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs139154206	chr16:35030310-35030311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs142965277	chr16:35030338-35030339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs561374700	chr16:35030349-35030350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs528294798	chr16:35030365-35030366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs540464066	chr16:35030376-35030377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs34864238	chr16:35030378-35030379	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540176213	chr16:35030382-35030383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs532404042	chr16:35030446-35030447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368728831	chr16:35030457-35030458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550624719	chr16:35030505-35030506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34819635	chr16:35030515-35030516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs8046677	chr16:35030529-35030530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372364217	chr16:35030541-35030542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35029000-35029600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr16:35029600-35030400	ZNF genes & repeats	Placenta	Placenta
3	chr16:35029800-35030000	Enhancers	Stomach Mucosa	stomach
4	chr16:35029800-35030200	ZNF genes & repeats	Lung	lung
5	chr16:35030200-35030400	ZNF genes & repeats	Gastric	stomach
6	chr16:35030400-35031600	Weak transcription	Gastric	stomach
7	chr16:35031600-35031800	Enhancers	Gastric	stomach
8	chr16:35032000-35033000	Enhancers	Stomach Mucosa	stomach
9	chr16:35033200-35033600	Enhancers	Dnd41	blood
10	chr16:35033400-35033600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:35033600-35035800	Weak transcription	Dnd41	blood
12	chr16:35033800-35034200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:35035800-35036200	ZNF genes & repeats	Dnd41	blood
14	chr16:35036200-35039200	Weak transcription	Dnd41	blood
15	chr16:35037000-35037400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links