Variant report

Variant	esv3424291
Chromosome Location	chr16:76296751-76300449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:173)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:173 , 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	chr16:76297646-76297827	H1-hESC	embryonic stem cell:	n/a	chr16:76297751-76297762
2	CEBPB	chr16:76297599-76297930	HepG2	liver:	n/a	chr16:76297751-76297762
3	CTCF	chr16:76299450-76299669	HepG2	liver:	n/a	n/a
4	CTCF	chr16:76299480-76299630	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr16:76299480-76299630	HEK293	kidney:	n/a	n/a
6	CTCF	chr16:76299420-76299570	HVMF	connective:	n/a	n/a
7	CTCF	chr16:76299451-76299636	GM12892	blood:	n/a	n/a
8	CTCF	chr16:76299480-76299630	WI-38	lung:	n/a	n/a
9	CTCF	chr16:76299460-76299610	AG04450	lung:	n/a	n/a
10	CTCF	chr16:76299440-76299590	HEK293	kidney:	n/a	n/a
11	CTCF	chr16:76299440-76299590	GM12874	blood:	n/a	n/a
12	CTCF	chr16:76299460-76299610	GM12878	blood:	n/a	n/a
13	CTCF	chr16:76299428-76299668	GM12878	blood:	n/a	n/a
14	CTCF	chr16:76299480-76299630	HL-60	blood:	n/a	n/a
15	CTCF	chr16:76299398-76299733	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr16:76299500-76299650	Caco-2	colon:	n/a	n/a
17	CTCF	chr16:76299440-76299590	GM12868	blood:	n/a	n/a
18	CTCF	chr16:76299433-76299641	K562	blood:	n/a	n/a
19	CTCF	chr16:76299480-76299630	GM12872	blood:	n/a	n/a
20	CTCF	chr16:76299480-76299630	NB4	blood:	n/a	n/a
21	CTCF	chr16:76299385-76299689	K562	blood:	n/a	n/a
22	CTCF	chr16:76299506-76299589	GM13976	blood:	n/a	n/a
23	CTCF	chr16:76299460-76299610	GM12867	blood:	n/a	n/a
24	CTCF	chr16:76299400-76299550	GM06990	blood:	n/a	n/a
25	CTCF	chr16:76299100-76299250	GM12868	blood:	n/a	n/a
26	CTCF	chr16:76299428-76299638	K562	blood:	n/a	n/a
27	CTCF	chr16:76299460-76299610	BJ	skin:	n/a	n/a
28	CTCF	chr16:76299440-76299590	AG10803	skin:	n/a	n/a
29	CTCF	chr16:76299419-76299671	MCF-7	breast:	n/a	n/a
30	CTCF	chr16:76299460-76299610	HRE	kidney:	n/a	n/a
31	CTCF	chr16:76299427-76299634	LNCaP	prostate:	n/a	n/a
32	CTCF	chr16:76299400-76299550	HFF	foreskin:	n/a	n/a
33	CTCF	chr16:76299500-76299650	HPF	lung:	n/a	n/a
34	CTCF	chr16:76299460-76299610	GM12875	blood:	n/a	n/a
35	CTCF	chr16:76299420-76299570	HFF-Myc	foreskin:	n/a	n/a
36	CTCF	chr16:76299400-76299550	BJ	skin:	n/a	n/a
37	CTCF	chr16:76299440-76299590	Caco-2	colon:	n/a	n/a
38	CTCF	chr16:76299514-76299590	Lung_OC	lung:	n/a	n/a
39	CTCF	chr16:76299438-76299635	GM13977	blood:	n/a	n/a
40	CTCF	chr16:76299460-76299610	GM12865	blood:	n/a	n/a
41	CTCF	chr16:76299414-76299678	Gliobla	brain:	n/a	n/a
42	CTCF	chr16:76299480-76299630	A549	lung:	n/a	n/a
43	CTCF	chr16:76299460-76299610	HPF	lung:	n/a	n/a
44	CTCF	chr16:76299520-76299670	AG10803	skin:	n/a	n/a
45	CTCF	chr16:76299440-76299590	GM12865	blood:	n/a	n/a
46	CTCF	chr16:76299460-76299610	HCT-116	colon:	n/a	n/a
47	CTCF	chr16:76299440-76299590	NHDF-neo	bronchial:	n/a	n/a
48	CTCF	chr16:76299480-76299630	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr16:76299520-76299670	HFF-Myc	foreskin:	n/a	n/a
50	CTCF	chr16:76299480-76299630	GM12864	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:76294288..76297210-chr16:76297398..76300230,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260983	TF binding region
ENSG00000260983	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74024960	chr16:76297415-76297416	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574716893	chr16:76297446-76297447	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs540048278	chr16:76297449-76297450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552850682	chr16:76297450-76297451	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560414949	chr16:76297455-76297456	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572797751	chr16:76297472-76297473	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532227933	chr16:76297505-76297506	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs74395392	chr16:76297556-76297557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562575382	chr16:76297557-76297558	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75938247	chr16:76297583-76297584	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543843725	chr16:76297589-76297590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568657976	chr16:76297593-76297594	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11863683	chr16:76297606-76297607	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181944457	chr16:76297609-76297610	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575099299	chr16:76297619-76297620	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372794786	chr16:76297631-76297632	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547661696	chr16:76297634-76297635	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187386650	chr16:76297636-76297637	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539665207	chr16:76297653-76297654	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556191110	chr16:76297656-76297657	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190659822	chr16:76297676-76297677	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535471312	chr16:76297692-76297693	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555775908	chr16:76297693-76297694	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544326368	chr16:76297807-76297808	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs574620899	chr16:76297866-76297867	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540553286	chr16:76297871-76297872	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114712011	chr16:76297874-76297875	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs375477060	chr16:76297904-76297905	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577067371	chr16:76297905-76297906	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546032072	chr16:76298028-76298029	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs574861558	chr16:76298089-76298090	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543916843	chr16:76298091-76298092	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562564793	chr16:76298109-76298110	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs62049681	chr16:76298116-76298117	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs149163741	chr16:76298124-76298125	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs62049682	chr16:76298126-76298127	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs73617457	chr16:76298145-76298146	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547657123	chr16:76298146-76298147	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182904426	chr16:76298151-76298152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187096984	chr16:76298153-76298154	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550002390	chr16:76298202-76298203	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs79229880	chr16:76298246-76298247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs78589837	chr16:76298262-76298263	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528781811	chr16:76298283-76298284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs151276661	chr16:76298303-76298304	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534728305	chr16:76298351-76298352	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs532275953	chr16:76298377-76298378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547906299	chr16:76298411-76298412	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs79129014	chr16:76298414-76298415	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577252968	chr16:76298564-76298565	Inactive region	TF binding region Chromatin interactive region	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
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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 lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76299200-76299800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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