Variant report

Variant	nsv977998
Chromosome Location	chr16:71454098-71457409
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr16:71455968-71456182	K562	blood:	n/a	n/a
2	CCNT2	chr16:71455982-71456185	K562	blood:	n/a	n/a
3	CEBPB	chr16:71456842-71456982	HepG2	liver:	n/a	chr16:71456905-71456916
4	CTCF	chr16:71456040-71456190	HCFaa	heart:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
5	CTCF	chr16:71456040-71456190	SAEC	small airway:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
6	CTCF	chr16:71456020-71456170	MCF-7	breast:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
7	CTCF	chr16:71455970-71456244	GM19240	blood:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
8	CTCF	chr16:71456020-71456170	HRE	kidney:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
9	CTCF	chr16:71455907-71456232	K562	blood:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
10	CTCF	chr16:71456058-71456179	GM20000	blood:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
11	CTCF	chr16:71456080-71456230	HFF-Myc	foreskin:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
12	CTCF	chr16:71456000-71456150	HVMF	connective:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
13	CTCF	chr16:71456040-71456190	Caco-2	colon:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
14	CTCF	chr16:71455978-71456207	HepG2	liver:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
15	CTCF	chr16:71455580-71455730	GM12871	blood:	n/a	n/a
16	CTCF	chr16:71456020-71456170	GM12865	blood:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
17	CTCF	chr16:71456000-71456150	AG10803	skin:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
18	CTCF	chr16:71456120-71456270	RPTEC	kidney:	n/a	n/a
19	CTCF	chr16:71455989-71456259	IMR90	lung:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
20	CTCF	chr16:71456060-71456210	HMEC	breast:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
21	CTCF	chr16:71456017-71456224	HepG2	liver:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
22	CTCF	chr16:71456060-71456210	AoAF	blood vessel:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
23	CTCF	chr16:71455815-71456419	HCT-116	colon:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
24	CTCF	chr16:71456060-71456210	HEEpiC	esophagus:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
25	CTCF	chr16:71456007-71456198	Medullo	brain:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
26	CTCF	chr16:71456040-71456190	HepG2	liver:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
27	CTCF	chr16:71455990-71456232	MCF-7	breast:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
28	CTCF	chr16:71455971-71456233	NHEK	skin:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
29	CTCF	chr16:71456040-71456190	HRPEpiC	eye:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
30	CTCF	chr16:71456020-71456170	SK-N-SH_RA	brain:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
31	CTCF	chr16:71456060-71456210	BJ	skin:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
32	CTCF	chr16:71456000-71456150	WI-38	lung:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
33	CTCF	chr16:71455980-71456225	MCF-7	breast:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
34	CTCF	chr16:71456080-71456230	A549	lung:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
35	CTCF	chr16:71456080-71456230	K562	blood:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
36	CTCF	chr16:71455940-71456436	A549	lung:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
37	CTCF	chr16:71455881-71456355	MCF-7	breast:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
38	CTCF	chr16:71455969-71456289	A549	lung:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
39	CTCF	chr16:71456040-71456190	GM12873	blood:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
40	CTCF	chr16:71456000-71456150	HPF	lung:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
41	CTCF	chr16:71456020-71456170	GM12875	blood:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
42	CTCF	chr16:71456060-71456210	AG09309	skin:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
43	CTCF	chr16:71455974-71456233	MCF-7	breast:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
44	CTCF	chr16:71455982-71456234	MCF-7	breast:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
45	CTCF	chr16:71455991-71456243	H1-hESC	embryonic stem cell:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
46	CTCF	chr16:71456040-71456190	GM12867	blood:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
47	CTCF	chr16:71456000-71456150	HCT-116	colon:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
48	CTCF	chr16:71455906-71456386	K562	blood:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
49	CTCF	chr16:71456060-71456210	GM12878	blood:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123
50	CTCF	chr16:71456040-71456190	GM12865	blood:	n/a	chr16:71456107-71456125 chr16:71456113-71456122 chr16:71456102-71456123

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:71455949-71455999	PANC-1	pancreas:	n/a
2	chr16:71455949-71455999	T-47D	breast:	n/a
3	chr16:71455949-71455999	PFSK-1	brain:	n/a
4	chr16:71455949-71455999	HNPCEpiC	eye:	n/a
5	chr16:71455949-71455999	AG09319	gingival:	n/a
6	chr16:71455949-71455999	AG04450	lung:	fetal
7	chr16:71455949-71455999	Hepatocyte	liver:	n/a
8	chr16:71455949-71455999	AG04449	skin:	fetal
9	chr16:71455949-71455999	HCM	heart:	n/a
10	chr16:71455949-71455999	HPAEpiC	pulmonary alveolar:	n/a
11	chr16:71455949-71455999	A549	lung:	n/a
12	chr16:71455949-71455999	HEK293	kidney:	embryo
13	chr16:71455949-71455999	H1-hESC	embryonic stem cell:	embryo
14	chr16:71455949-71455999	AoSMC	blood vessel:	n/a
15	chr16:71455949-71455999	U87	brain:	n/a
16	chr16:71455949-71455999	HMEC	breast:	n/a
17	chr16:71455949-71455999	HAEpiC	amniotic membrane:	n/a
18	chr16:71455949-71455999	HUVEC	blood vessel:	n/a
19	chr16:71455949-71455999	MCF10A-Er-Src	breast:	n/a
20	chr16:71455949-71455999	ECC-1	luminal epithelium:	n/a
21	chr16:71455949-71455999	PrEC	prostate:	n/a
22	chr16:71455949-71455999	Jurkat	blood:	n/a
23	chr16:71455949-71455999	SK-N-SH_RA	brain:	n/a
24	chr16:71455949-71455999	IMR90	lung:	fetal
25	chr16:71455949-71455999	HIPEpiC	eye:	n/a
26	chr16:71455949-71455999	LNCaP	prostate:	n/a
27	chr16:71455949-71455999	BE2_C	brain:	n/a
28	chr16:71455949-71455999	SK-N-SH	brain:	n/a
29	chr16:71455949-71455999	HRE	kidney:	n/a
30	chr16:71455949-71455999	HRPEpiC	eye:	n/a
31	chr16:71455949-71455999	SK-N-MC	brain:	n/a
32	chr16:71455949-71455999	GM12878	blood:	n/a
33	chr16:71455949-71455999	NHDF-neo	bronchial:	n/a
34	chr16:71455949-71455999	K562	blood:	n/a
35	chr16:71455949-71455999	SKMC	muscle:	n/a
36	chr16:71455949-71455999	AG09309	skin:	n/a
37	chr16:71455949-71455999	GM12892	blood:	n/a
38	chr16:71455949-71455999	ovcar-3	ovarian:	n/a
39	chr16:71455949-71455999	AG10803	skin:	n/a
40	chr16:71455949-71455999	GM06990	blood:	n/a
41	chr16:71455949-71455999	HCT-116	colon:	n/a
42	chr16:71455949-71455999	HEEpiC	esophagus:	n/a
43	chr16:71455949-71455999	HCF	heart:	n/a
44	chr16:71455949-71455999	HRCEpiC	kidney:	n/a
45	chr16:71455949-71455999	Hela-S3	cervix:	n/a
46	chr16:71455949-71455999	NB4	blood:	n/a
47	chr16:71455949-71455999	MCF-7	breast:	n/a
48	chr16:71455949-71455999	GM12891	blood:	n/a
49	chr16:71455949-71455999	Caco-2	colon:	n/a
50	chr16:71455949-71455999	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71455740..71456643-chr16:71466049..71466727,2	K562	blood:
2	chr16:71446325..71447209-chr16:71455576..71456210,4	MCF-7	breast:
3	chr16:71456183..71457694-chr16:71459413..71461480,2	K562	blood:
4	chr16:71456240..71458777-chr16:71460863..71462681,2	MCF-7	breast:
5	chr16:71452691..71455669-chr16:71459394..71461176,2	MCF-7	breast:
6	chr16:71446373..71446879-chr16:71455612..71456584,2	K562	blood:
7	chr16:71400996..71401584-chr16:71455562..71456517,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALB2-5	chr16:71455213-71455421	NONHSAT143473
2	lnc-CALB2-5	chr16:71454386-71454509	NONHSAT143473

Variant related genes	Relation type
ENSG00000262120	TF binding region
ENSG00000262120	CpG island
ENSG00000260734	chromatin interactions
ENSG00000261348	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555755141	chr16:71454108-71454109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs189339586	chr16:71454114-71454115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs180915372	chr16:71454188-71454189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555741905	chr16:71454198-71454199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574749974	chr16:71454215-71454216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78972826	chr16:71454264-71454265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541573118	chr16:71454265-71454266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs117773565	chr16:71454307-71454308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572024133	chr16:71454311-71454312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557146930	chr16:71454350-71454351	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564974213	chr16:71454365-71454366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs117275638	chr16:71454406-71454407	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs564262186	chr16:71454435-71454436	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs546020555	chr16:71454474-71454475	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs187293366	chr16:71454487-71454488	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs377584751	chr16:71454494-71454495	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs530071846	chr16:71454501-71454502	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs373449066	chr16:71454502-71454503	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs145736070	chr16:71454514-71454515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs56067203	chr16:71454515-71454516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181540744	chr16:71454530-71454531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7188021	chr16:71454596-71454597	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538167056	chr16:71454602-71454603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556779076	chr16:71454603-71454604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs148957249	chr16:71454613-71454614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs56893224	chr16:71454624-71454625	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs553484084	chr16:71454643-71454644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572145623	chr16:71454651-71454652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545874783	chr16:71454795-71454796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs557988140	chr16:71454823-71454824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs148152654	chr16:71454848-71454849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs8047278	chr16:71454882-71454883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543756433	chr16:71454967-71454968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs562052380	chr16:71455007-71455008	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113950708	chr16:71455009-71455010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531061674	chr16:71455066-71455067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529157224	chr16:71455072-71455073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141404454	chr16:71455075-71455076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs78008686	chr16:71455088-71455089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186015743	chr16:71455135-71455136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs8047953	chr16:71455136-71455137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552222911	chr16:71455187-71455188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570723582	chr16:71455221-71455222	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs570848512	chr16:71455232-71455233	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs531819421	chr16:71455267-71455268	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs550083528	chr16:71455319-71455320	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs568781453	chr16:71455320-71455321	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs190547315	chr16:71455338-71455339	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs181112122	chr16:71455381-71455382	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs568452895	chr16:71455389-71455390	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Autism	22495311	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71446800-71459600	Weak transcription	Spleen	Spleen
2	chr16:71448200-71455600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:71455600-71455800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:71455600-71455800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
5	chr16:71455800-71458800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:71457000-71461000	Weak transcription	Right Atrium	heart

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