Variant report

Variant	esv3418631
Chromosome Location	chr11:56756505-56785670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:276)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:56770924-56771091	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:56773043-56773301	HepG2	liver:	n/a	chr11:56773158-56773169
3	CTCF	chr11:56769380-56769530	GM12878	blood:	n/a	n/a
4	CTCF	chr11:56769280-56769430	GM12864	blood:	n/a	n/a
5	CTCF	chr11:56769280-56769430	HepG2	liver:	n/a	n/a
6	CTCF	chr11:56769340-56769490	HMEC	breast:	n/a	n/a
7	CTCF	chr11:56769340-56769490	HCT-116	colon:	n/a	n/a
8	CTCF	chr11:56769240-56769390	HPF	lung:	n/a	n/a
9	CTCF	chr11:56769240-56769390	HMF	breast:	n/a	n/a
10	CTCF	chr11:56761280-56761430	HepG2	liver:	n/a	n/a
11	CTCF	chr11:56769200-56769350	GM06990	blood:	n/a	n/a
12	CTCF	chr11:56769303-56769401	GM10266	blood:	n/a	n/a
13	CTCF	chr11:56761200-56761350	BJ	skin:	n/a	n/a
14	CTCF	chr11:56769299-56769362	LNCaP	prostate:	n/a	n/a
15	CTCF	chr11:56769280-56769430	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr11:56761260-56761410	A549	lung:	n/a	n/a
17	CTCF	chr11:56769160-56769310	RPTEC	kidney:	n/a	n/a
18	CTCF	chr11:56761284-56761423	GM19238	blood:	n/a	n/a
19	CTCF	chr11:56761280-56761430	HBMEC	blood vessel:	n/a	n/a
20	CTCF	chr11:56769260-56769410	GM12864	blood:	n/a	n/a
21	CTCF	chr11:56761340-56761490	NB4	blood:	n/a	n/a
22	CTCF	chr11:56769336-56769398	Pancreas_OC	pancreas:	n/a	n/a
23	CTCF	chr11:56761260-56761410	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr11:56769320-56769470	HFF	foreskin:	n/a	n/a
25	CTCF	chr11:56769500-56769650	GM12873	blood:	n/a	n/a
26	CTCF	chr11:56761240-56761390	HepG2	liver:	n/a	n/a
27	CTCF	chr11:56769260-56769410	BJ	skin:	n/a	n/a
28	CTCF	chr11:56769280-56769430	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr11:56761260-56761490	GM12871	blood:	n/a	n/a
30	CTCF	chr11:56773955-56774079	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:56769260-56769410	GM12878	blood:	n/a	n/a
32	CTCF	chr11:56769300-56769450	BJ	skin:	n/a	n/a
33	CTCF	chr11:56761260-56761410	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr11:56769269-56769426	ProgFib	skin:	n/a	n/a
35	CTCF	chr11:56761359-56761366	MCF-7	breast:	n/a	n/a
36	CTCF	chr11:56769280-56769430	GM12866	blood:	n/a	n/a
37	CTCF	chr11:56769280-56769430	HCFaa	heart:	n/a	n/a
38	CTCF	chr11:56769260-56769410	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr11:56769280-56769430	GM12871	blood:	n/a	n/a
40	CTCF	chr11:56761240-56761390	AG10803	skin:	n/a	n/a
41	CTCF	chr11:56769180-56769330	GM12870	blood:	n/a	n/a
42	CTCF	chr11:56769300-56769450	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr11:56769140-56769290	HFF	foreskin:	n/a	n/a
44	CTCF	chr11:56773987-56774097	K562	blood:	n/a	n/a
45	CTCF	chr11:56761238-56761438	ProgFib	skin:	n/a	n/a
46	CTCF	chr11:56769480-56769630	GM12866	blood:	n/a	n/a
47	CTCF	chr11:56769240-56769390	RPTEC	kidney:	n/a	n/a
48	CTCF	chr11:56769240-56769390	HL-60	blood:	n/a	n/a
49	CTCF	chr11:56761340-56761490	HEK293	kidney:	n/a	n/a
50	CTCF	chr11:56761240-56761390	AG09309	skin:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:56756800-56756850	HRPEpiC	eye:	n/a
2	chr11:56756800-56756850	SK-N-MC	brain:	n/a
3	chr11:56756800-56756850	HRCEpiC	kidney:	n/a
4	chr11:56756800-56756850	H1-hESC	embryonic stem cell:	embryo
5	chr11:56756800-56756850	U87	brain:	n/a
6	chr11:56756800-56756850	NT2-D1	testis:	n/a
7	chr11:56756800-56756850	GM12878	blood:	n/a
8	chr11:56756800-56756850	NB4	blood:	n/a
9	chr11:56756800-56756850	GM12891	blood:	n/a
10	chr11:56756800-56756850	HCT-116	colon:	n/a
11	chr11:56756800-56756850	Hela-S3	cervix:	n/a
12	chr11:56756800-56756850	RPTEC	kidney:	n/a
13	chr11:56756800-56756850	ProgFib	skin:	n/a
14	chr11:56756800-56756850	MCF-7	breast:	n/a
15	chr11:56756800-56756850	HRE	kidney:	n/a
16	chr11:56756800-56756850	ECC-1	luminal epithelium:	n/a
17	chr11:56756800-56756850	SAEC	small airway:	n/a
18	chr11:56756800-56756850	HNPCEpiC	eye:	n/a
19	chr11:56756800-56756850	T-47D	breast:	n/a
20	chr11:56756800-56756850	HepG2	liver:	n/a
21	chr11:56756800-56756850	K562	blood:	n/a
22	chr11:56756800-56756850	HEEpiC	esophagus:	n/a
23	chr11:56756800-56756850	NH-A	brain:	n/a
24	chr11:56756800-56756850	HCM	heart:	n/a
25	chr11:56756800-56756850	PrEC	prostate:	n/a
26	chr11:56756800-56756850	AG09309	skin:	n/a
27	chr11:56756800-56756850	ovcar-3	ovarian:	n/a
28	chr11:56756800-56756850	PANC-1	pancreas:	n/a
29	chr11:56756800-56756850	LNCaP	prostate:	n/a
30	chr11:56756800-56756850	SK-N-SH_RA	brain:	n/a
31	chr11:56756800-56756850	SK-N-SH	brain:	n/a
32	chr11:56756800-56756850	PFSK-1	brain:	n/a
33	chr11:56756800-56756850	SKMC	muscle:	n/a
34	chr11:56756800-56756850	BJ	skin:	n/a
35	chr11:56756800-56756850	Caco-2	colon:	n/a
36	chr11:56756800-56756850	GM12892	blood:	n/a
37	chr11:56756800-56756850	AG04449	skin:	fetal
38	chr11:56756800-56756850	A549	lung:	n/a
39	chr11:56756800-56756850	IMR90	lung:	fetal
40	chr11:56756800-56756850	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:56756800-56756850	HCF	heart:	n/a
42	chr11:56756800-56756850	Jurkat	blood:	n/a
43	chr11:56756800-56756850	GM06990	blood:	n/a
44	chr11:56756800-56756850	HEK293	kidney:	embryo
45	chr11:56756800-56756850	HIPEpiC	eye:	n/a
46	chr11:56756800-56756850	MCF10A-Er-Src	breast:	n/a
47	chr11:56756800-56756850	Hepatocyte	liver:	n/a
48	chr11:56756800-56756850	AG09319	gingival:	n/a
49	chr11:56756800-56756850	AG04450	lung:	fetal
50	chr11:56756800-56756850	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:56769288..56770290-chr11:57016463..57017822,3	K562	blood:
2	chr11:56767045..56768720-chr17:57919244..57922176,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR5AK1P	TF binding region
OR5AK1P	CpG island

Extended variants
information (count: 562 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552005521	chr11:56761010-56761011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs560974061	chr11:56761028-56761029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs570599909	chr11:56761031-56761032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs534523332	chr11:56761048-56761049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs61886713	chr11:56761070-56761071	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568352295	chr11:56761112-56761113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs535796793	chr11:56761122-56761123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554981299	chr11:56761185-56761186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs185266379	chr11:56761191-56761192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs537522946	chr11:56761198-56761199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs558786410	chr11:56761199-56761200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs372944834	chr11:56761202-56761203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs79900298	chr11:56761206-56761207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs80298242	chr11:56761222-56761223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs368655402	chr11:56761269-56761270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs12575912	chr11:56761295-56761296	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs79994523	chr11:56761301-56761302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs566720789	chr11:56761376-56761377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs553196622	chr11:56761393-56761394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs371051649	chr11:56761396-56761397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs148347915	chr11:56761419-56761420	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189690013	chr11:56761421-56761422	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562912809	chr11:56761424-56761425	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572291275	chr11:56761430-56761431	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545839041	chr11:56761442-56761443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564036239	chr11:56761447-56761448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141863510	chr11:56761449-56761450	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540619470	chr11:56761519-56761520	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543454145	chr11:56761528-56761529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111477147	chr11:56761542-56761543	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532749380	chr11:56761549-56761550	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568290393	chr11:56761594-56761595	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551952466	chr11:56761642-56761643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529167873	chr11:56761651-56761652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181907574	chr11:56761655-56761656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568956201	chr11:56761665-56761666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117690291	chr11:56761668-56761669	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187208387	chr11:56761693-56761694	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191636030	chr11:56761721-56761722	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183796634	chr11:56761744-56761745	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147104121	chr11:56761779-56761780	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553133446	chr11:56761835-56761836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186648524	chr11:56761854-56761855	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190421382	chr11:56761877-56761878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557238189	chr11:56761899-56761900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575138666	chr11:56761907-56761908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545473859	chr11:56761916-56761917	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138679047	chr11:56761964-56761965	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182646281	chr11:56761969-56761970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186824984	chr11:56761994-56761995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Breast cancer	17142309	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56761000-56763800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:56761200-56761400	ZNF genes & repeats	Spleen	Spleen
3	chr11:56761400-56762600	Weak transcription	Spleen	Spleen
4	chr11:56762600-56763400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:56762600-56763600	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr11:56762600-56763600	ZNF genes & repeats	Spleen	Spleen
7	chr11:56763000-56768800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:56763600-56768400	Weak transcription	Spleen	Spleen
9	chr11:56765800-56768800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:56768400-56769800	ZNF genes & repeats	Spleen	Spleen
11	chr11:56768800-56769200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:56769200-56769600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:56769400-56769800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:56769600-56769800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:56769600-56771600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:56769800-56772600	Weak transcription	Spleen	Spleen
17	chr11:56771400-56771800	Enhancers	A549	lung
18	chr11:56772600-56772800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:56772600-56773400	ZNF genes & repeats	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links