Variant report

Variant	nsv1040823
Chromosome Location	chr11:4503083-4530349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:369)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:4514547-4514747	K562	blood:	n/a	n/a
2	BATF	chr11:4514308-4514557	GM12878	blood:	n/a	n/a
3	BATF	chr11:4514210-4514762	GM12878	blood:	n/a	n/a
4	BCL11A	chr11:4514425-4514768	GM12878	blood:	n/a	n/a
5	BCL11A	chr11:4514325-4514757	GM12878	blood:	n/a	n/a
6	BHLHE40	chr11:4514262-4514648	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:4514088-4514588	K562	blood:	n/a	n/a
8	CEBPB	chr11:4512084-4512518	MCF-7	breast:	n/a	n/a
9	CEBPB	chr11:4521549-4521828	K562	blood:	n/a	chr11:4521689-4521700
10	CEBPB	chr11:4521334-4521828	IMR90	lung:	n/a	chr11:4521689-4521700
11	CEBPB	chr11:4511844-4512110	HepG2	liver:	n/a	chr11:4511948-4511959
12	CEBPB	chr11:4521534-4521859	HepG2	liver:	n/a	chr11:4521689-4521700
13	CEBPB	chr11:4521600-4521789	H1-hESC	embryonic stem cell:	n/a	chr11:4521689-4521700
14	CEBPB	chr11:4511868-4512046	K562	blood:	n/a	chr11:4511948-4511959
15	CEBPB	chr11:4521640-4521844	A549	lung:	n/a	chr11:4521689-4521700
16	CEBPB	chr11:4511852-4512146	A549	lung:	n/a	chr11:4511948-4511959
17	CEBPB	chr11:4516863-4517063	K562	blood:	n/a	n/a
18	CEBPB	chr11:4511807-4512092	IMR90	lung:	n/a	chr11:4511948-4511959
19	CEBPB	chr11:4511930-4511964	H1-hESC	embryonic stem cell:	n/a	chr11:4511948-4511959
20	CEBPB	chr11:4506243-4506344	K562	blood:	n/a	n/a
21	CTCF	chr11:4514523-4514800	GM19240	blood:	n/a	n/a
22	CTCF	chr11:4514514-4514766	A549	lung:	n/a	n/a
23	CTCF	chr11:4514425-4514796	HepG2	liver:	n/a	n/a
24	CTCF	chr11:4514537-4514812	Lung_OC	lung:	n/a	n/a
25	CTCF	chr11:4514480-4514630	HVMF	connective:	n/a	n/a
26	CTCF	chr11:4514580-4514730	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr11:4514580-4514730	HEK293	kidney:	n/a	n/a
28	CTCF	chr11:4514920-4515070	HPF	lung:	n/a	n/a
29	CTCF	chr11:4514480-4514630	NHDF-neo	bronchial:	n/a	n/a
30	CTCF	chr11:4514551-4514779	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr11:4514547-4514784	MCF-7	breast:	n/a	n/a
32	CTCF	chr11:4514580-4514870	HA-sp	spinal cord:	n/a	n/a
33	CTCF	chr11:4514522-4514807	GM12878	blood:	n/a	n/a
34	CTCF	chr11:4514550-4514813	LNCaP	prostate:	n/a	n/a
35	CTCF	chr11:4514461-4514790	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr11:4514522-4514808	Fibrobl	skin:	n/a	n/a
37	CTCF	chr11:4514720-4514870	A549	lung:	n/a	n/a
38	CTCF	chr11:4514600-4514750	NHEK	skin:	n/a	n/a
39	CTCF	chr11:4514953-4514985	GM12891	blood:	n/a	n/a
40	CTCF	chr11:4514560-4514710	GM06990	blood:	n/a	n/a
41	CTCF	chr11:4514600-4514750	Caco-2	colon:	n/a	n/a
42	CTCF	chr11:4514384-4514855	MCF-7	breast:	n/a	n/a
43	CTCF	chr11:4515019-4515100	LNCaP	prostate:	n/a	n/a
44	CTCF	chr11:4514480-4514630	SAEC	small airway:	n/a	n/a
45	CTCF	chr11:4514480-4514630	RPTEC	kidney:	n/a	n/a
46	CTCF	chr11:4514500-4514650	GM12867	blood:	n/a	n/a
47	CTCF	chr11:4514580-4514730	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr11:4514940-4515090	GM12873	blood:	n/a	n/a
49	CTCF	chr11:4514120-4514270	SAEC	small airway:	n/a	n/a
50	CTCF	chr11:4514580-4514730	HPF	lung:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4509357-4509407	HUVEC	blood vessel:	n/a
2	chr11:4510366-4510416	BJ	skin:	n/a
3	chr11:4509357-4509407	HCF	heart:	n/a
4	chr11:4509357-4509407	HepG2	liver:	n/a
5	chr11:4510366-4510416	HMEC	breast:	n/a
6	chr11:4510366-4510416	NH-A	brain:	n/a
7	chr11:4509357-4509407	PrEC	prostate:	n/a
8	chr11:4508841-4508891	PFSK-1	brain:	n/a
9	chr11:4508841-4508891	SK-N-MC	brain:	n/a
10	chr11:4509357-4509407	Hepatocyte	liver:	n/a
11	chr11:4508841-4508891	Caco-2	colon:	n/a
12	chr11:4509357-4509407	AG10803	skin:	n/a
13	chr11:4509357-4509407	AG09319	gingival:	n/a
14	chr11:4510366-4510416	H1-hESC	embryonic stem cell:	embryo
15	chr11:4510366-4510416	Jurkat	blood:	n/a
16	chr11:4508841-4508891	T-47D	breast:	n/a
17	chr11:4510366-4510416	HL-60	blood:	n/a
18	chr11:4509357-4509407	T-47D	breast:	n/a
19	chr11:4510366-4510416	AoSMC	blood vessel:	n/a
20	chr11:4510366-4510416	Caco-2	colon:	n/a
21	chr11:4510366-4510416	SK-N-SH_RA	brain:	n/a
22	chr11:4510366-4510416	ovcar-3	ovarian:	n/a
23	chr11:4508841-4508891	IMR90	lung:	fetal
24	chr11:4509357-4509407	BE2_C	brain:	n/a
25	chr11:4509357-4509407	Jurkat	blood:	n/a
26	chr11:4510366-4510416	LNCaP	prostate:	n/a
27	chr11:4510366-4510416	Hepatocyte	liver:	n/a
28	chr11:4508841-4508891	HEK293	kidney:	embryo
29	chr11:4510366-4510416	NHBE	bronchial:	n/a
30	chr11:4510366-4510416	MCF-7	breast:	n/a
31	chr11:4508841-4508891	BE2_C	brain:	n/a
32	chr11:4510366-4510416	T-47D	breast:	n/a
33	chr11:4509357-4509407	HAEpiC	amniotic membrane:	n/a
34	chr11:4508841-4508891	SK-N-SH_RA	brain:	n/a
35	chr11:4510366-4510416	RPTEC	kidney:	n/a
36	chr11:4510366-4510416	HRE	kidney:	n/a
37	chr11:4508841-4508891	H1-hESC	embryonic stem cell:	embryo
38	chr11:4508841-4508891	MCF-7	breast:	n/a
39	chr11:4509357-4509407	H1-hESC	embryonic stem cell:	embryo
40	chr11:4509357-4509407	HL-60	blood:	n/a
41	chr11:4508841-4508891	HCM	heart:	n/a
42	chr11:4508841-4508891	HMEC	breast:	n/a
43	chr11:4509357-4509407	PANC-1	pancreas:	n/a
44	chr11:4510366-4510416	K562	blood:	n/a
45	chr11:4510366-4510416	HCPEpiC	choroid plexus:	n/a
46	chr11:4508841-4508891	K562	blood:	n/a
47	chr11:4510366-4510416	HEK293	kidney:	embryo
48	chr11:4510366-4510416	HEEpiC	esophagus:	n/a
49	chr11:4510366-4510416	HIPEpiC	eye:	n/a
50	chr11:4509357-4509407	GM12878	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4208123..4209247-chr11:4514343..4515119,4	MCF-7	breast:
2	chr11:4208460..4209382-chr11:4513705..4515541,8	MCF-7	breast:

No data

Variant related genes	Relation type
OR52K1	TF binding region
OR52K1	CpG island
ENSG00000254480	chromatin interactions

Extended variants
information (count: 906 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:906 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147155772	chr11:4503096-4503097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184397847	chr11:4503157-4503158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140126737	chr11:4503257-4503258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143990163	chr11:4503273-4503274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543981419	chr11:4503274-4503275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565112896	chr11:4503280-4503281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537389232	chr11:4503281-4503282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73425784	chr11:4503293-4503294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs376675896	chr11:4503300-4503301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541331722	chr11:4503305-4503306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560019094	chr11:4503307-4503308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530187117	chr11:4503325-4503326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548382492	chr11:4503338-4503339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569954369	chr11:4503351-4503352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576823868	chr11:4503362-4503363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147333790	chr11:4503387-4503388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373547754	chr11:4503389-4503390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139967808	chr11:4503396-4503397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369627065	chr11:4503399-4503400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188393111	chr11:4503497-4503498	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs552964048	chr11:4503499-4503500	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs192509047	chr11:4503529-4503530	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535790169	chr11:4503531-4503532	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs557191676	chr11:4503556-4503557	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs575538765	chr11:4503582-4503583	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs113878759	chr11:4503584-4503585	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs376031859	chr11:4503683-4503684	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs149842267	chr11:4503695-4503696	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs185070836	chr11:4503742-4503743	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs541421233	chr11:4503823-4503824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559757451	chr11:4503848-4503849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144690199	chr11:4503869-4503870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542161293	chr11:4503896-4503897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148495739	chr11:4503899-4503900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559442560	chr11:4503935-4503936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs179479	chr11:4503938-4503939	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs542076912	chr11:4503954-4503955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142874322	chr11:4503963-4503964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368703898	chr11:4503965-4503966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570547940	chr11:4503970-4503971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528027405	chr11:4503994-4503995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188907621	chr11:4504020-4504021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568109534	chr11:4504021-4504022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535725288	chr11:4504052-4504053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182070492	chr11:4504053-4504054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569041072	chr11:4504060-4504061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539644421	chr11:4504092-4504093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558737488	chr11:4504100-4504101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577278797	chr11:4504115-4504116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534845684	chr11:4504142-4504143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4500800-4503200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:4500800-4503400	Enhancers	NHEK	skin
3	chr11:4501000-4503200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:4501000-4503200	Enhancers	HUVEC	blood vessel
5	chr11:4501200-4503200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:4501200-4506000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:4501600-4503200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr11:4501600-4504200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:4501800-4504400	Enhancers	Placenta	Placenta
10	chr11:4502600-4503400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:4502800-4503400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:4503000-4503400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr11:4503000-4505400	Weak transcription	HMEC	breast
14	chr11:4503200-4503600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:4503200-4505400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:4503200-4505400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:4503400-4503800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr11:4503400-4504200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:4503400-4505200	Weak transcription	NHEK	skin
20	chr11:4503600-4503800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:4503800-4504800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr11:4503800-4505600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:4504200-4514000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:4504400-4506000	Weak transcription	Placenta	Placenta
25	chr11:4504800-4505200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr11:4505200-4506000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr11:4505200-4506400	Enhancers	NHEK	skin
28	chr11:4505400-4506000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:4505400-4506200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:4505400-4506200	Enhancers	HMEC	breast
31	chr11:4505600-4506400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:4506000-4506200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr11:4506000-4507000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr11:4506000-4507200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr11:4506000-4507400	Enhancers	Placenta	Placenta
36	chr11:4507000-4507800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr11:4507200-4508400	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr11:4507800-4513800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr11:4508400-4513600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr11:4510600-4511000	Enhancers	Gastric	stomach
41	chr11:4513600-4514000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:4513600-4514200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:4513600-4514200	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr11:4513600-4514400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:4513600-4514400	Enhancers	NHDF-Ad	bronchial
46	chr11:4513600-4514600	Enhancers	Fetal Intestine Small	intestine
47	chr11:4513800-4514200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr11:4513800-4514200	Enhancers	Fetal Intestine Large	intestine
49	chr11:4514000-4514200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr11:4514000-4514200	Enhancers	Brain Hippocampus Middle	brain

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