Variant report

Variant	nsv1038290
Chromosome Location	chr11:4491101-4530349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:423)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	ATF1	chr11:4502329-4502511	K562	blood:	n/a	n/a
3	ATF3	chr11:4502231-4502443	K562	blood:	n/a	n/a
4	ATF3	chr11:4494239-4494395	K562	blood:	n/a	n/a
5	BATF	chr11:4514308-4514557	GM12878	blood:	n/a	n/a
6	BATF	chr11:4514210-4514762	GM12878	blood:	n/a	n/a
7	BCL11A	chr11:4514425-4514768	GM12878	blood:	n/a	n/a
8	BCL11A	chr11:4514325-4514757	GM12878	blood:	n/a	n/a
9	BHLHE40	chr11:4494212-4494443	K562	blood:	n/a	n/a
10	BHLHE40	chr11:4514088-4514588	K562	blood:	n/a	n/a
11	BHLHE40	chr11:4514262-4514648	GM12878	blood:	n/a	n/a
12	CEBPB	chr11:4511807-4512092	IMR90	lung:	n/a	chr11:4511948-4511959
13	CEBPB	chr11:4521640-4521844	A549	lung:	n/a	chr11:4521689-4521700
14	CEBPB	chr11:4521534-4521859	HepG2	liver:	n/a	chr11:4521689-4521700
15	CEBPB	chr11:4521600-4521789	H1-hESC	embryonic stem cell:	n/a	chr11:4521689-4521700
16	CEBPB	chr11:4512084-4512518	MCF-7	breast:	n/a	n/a
17	CEBPB	chr11:4511852-4512146	A549	lung:	n/a	chr11:4511948-4511959
18	CEBPB	chr11:4516863-4517063	K562	blood:	n/a	n/a
19	CEBPB	chr11:4521549-4521828	K562	blood:	n/a	chr11:4521689-4521700
20	CEBPB	chr11:4511844-4512110	HepG2	liver:	n/a	chr11:4511948-4511959
21	CEBPB	chr11:4506243-4506344	K562	blood:	n/a	n/a
22	CEBPB	chr11:4521334-4521828	IMR90	lung:	n/a	chr11:4521689-4521700
23	CEBPB	chr11:4511868-4512046	K562	blood:	n/a	chr11:4511948-4511959
24	CEBPB	chr11:4511930-4511964	H1-hESC	embryonic stem cell:	n/a	chr11:4511948-4511959
25	CTCF	chr11:4514480-4514630	AG09309	skin:	n/a	n/a
26	CTCF	chr11:4514480-4514630	HMF	breast:	n/a	n/a
27	CTCF	chr11:4514480-4514630	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr11:4514534-4514799	K562	blood:	n/a	n/a
29	CTCF	chr11:4514841-4514843	Medullo	brain:	n/a	n/a
30	CTCF	chr11:4514480-4514630	AG04449	skin:	n/a	n/a
31	CTCF	chr11:4514480-4514630	GM12871	blood:	n/a	n/a
32	CTCF	chr11:4514580-4514730	GM12875	blood:	n/a	n/a
33	CTCF	chr11:4514537-4514812	Lung_OC	lung:	n/a	n/a
34	CTCF	chr11:4514353-4514811	GM12891	blood:	n/a	n/a
35	CTCF	chr11:4514720-4514870	HFF-Myc	foreskin:	n/a	n/a
36	CTCF	chr11:4514580-4514730	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr11:4514480-4514630	GM12869	blood:	n/a	n/a
38	CTCF	chr11:4514397-4514826	GM12878	blood:	n/a	n/a
39	CTCF	chr11:4514565-4514734	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr11:4514480-4514630	HVMF	connective:	n/a	n/a
41	CTCF	chr11:4514938-4514962	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr11:4515020-4515170	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr11:4514158-4515264	SK-N-SH	brain:	n/a	n/a
44	CTCF	chr11:4514460-4514610	GM12868	blood:	n/a	n/a
45	CTCF	chr11:4514420-4514793	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr11:4514480-4514630	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr11:4514580-4514730	AG09319	gingival:	n/a	n/a
48	CTCF	chr11:4514500-4514650	HVMF	connective:	n/a	n/a
49	CTCF	chr11:4514580-4514870	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr11:4514563-4514793	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4510366-4510416	BJ	skin:	n/a
2	chr11:4510366-4510416	AoSMC	blood vessel:	n/a
3	chr11:4508841-4508891	AG09309	skin:	n/a
4	chr11:4509357-4509407	PANC-1	pancreas:	n/a
5	chr11:4510366-4510416	HUVEC	blood vessel:	n/a
6	chr11:4510366-4510416	Caco-2	colon:	n/a
7	chr11:4508841-4508891	Jurkat	blood:	n/a
8	chr11:4509357-4509407	CMK	blood:	n/a
9	chr11:4509357-4509407	HCF	heart:	n/a
10	chr11:4508841-4508891	HEEpiC	esophagus:	n/a
11	chr11:4510366-4510416	K562	blood:	n/a
12	chr11:4509357-4509407	HAEpiC	amniotic membrane:	n/a
13	chr11:4508841-4508891	AG04449	skin:	fetal
14	chr11:4509357-4509407	BE2_C	brain:	n/a
15	chr11:4509357-4509407	Hepatocyte	liver:	n/a
16	chr11:4510366-4510416	SKMC	muscle:	n/a
17	chr11:4510366-4510416	SK-N-SH_RA	brain:	n/a
18	chr11:4508841-4508891	SK-N-SH_RA	brain:	n/a
19	chr11:4510366-4510416	AG10803	skin:	n/a
20	chr11:4508841-4508891	AG09319	gingival:	n/a
21	chr11:4509357-4509407	GM12891	blood:	n/a
22	chr11:4508841-4508891	MCF-7	breast:	n/a
23	chr11:4509357-4509407	A549	lung:	n/a
24	chr11:4509357-4509407	SK-N-MC	brain:	n/a
25	chr11:4510366-4510416	GM06990	blood:	n/a
26	chr11:4508841-4508891	AoSMC	blood vessel:	n/a
27	chr11:4508841-4508891	Hepatocyte	liver:	n/a
28	chr11:4509357-4509407	SAEC	small airway:	n/a
29	chr11:4509357-4509407	AG10803	skin:	n/a
30	chr11:4509357-4509407	HPAEpiC	pulmonary alveolar:	n/a
31	chr11:4510366-4510416	HL-60	blood:	n/a
32	chr11:4510366-4510416	HCF	heart:	n/a
33	chr11:4510366-4510416	MCF-7	breast:	n/a
34	chr11:4509357-4509407	AG09309	skin:	n/a
35	chr11:4508841-4508891	ovcar-3	ovarian:	n/a
36	chr11:4508841-4508891	U87	brain:	n/a
37	chr11:4508841-4508891	HCT-116	colon:	n/a
38	chr11:4508841-4508891	SAEC	small airway:	n/a
39	chr11:4509357-4509407	Jurkat	blood:	n/a
40	chr11:4508841-4508891	IMR90	lung:	fetal
41	chr11:4510366-4510416	SAEC	small airway:	n/a
42	chr11:4510366-4510416	NB4	blood:	n/a
43	chr11:4510366-4510416	PFSK-1	brain:	n/a
44	chr11:4509357-4509407	SKMC	muscle:	n/a
45	chr11:4510366-4510416	ProgFib	skin:	n/a
46	chr11:4510366-4510416	H1-hESC	embryonic stem cell:	embryo
47	chr11:4509357-4509407	HMEC	breast:	n/a
48	chr11:4509357-4509407	Hela-S3	cervix:	n/a
49	chr11:4510366-4510416	AG09309	skin:	n/a
50	chr11:4509357-4509407	GM06990	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
OR52K3P	TF binding region
OR52K1	CpG island
OR52K3P	CpG island
ENSG00000254480	chromatin interactions

Extended variants
information (count: 1461 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1461 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549764323	chr11:4491127-4491128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371301424	chr11:4491135-4491136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571410061	chr11:4491144-4491145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148854742	chr11:4491151-4491152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145318748	chr11:4491156-4491157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113121212	chr11:4491167-4491168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370696833	chr11:4491168-4491169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146849070	chr11:4491173-4491174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536077273	chr11:4491190-4491191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111890995	chr11:4491272-4491273	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs145916751	chr11:4491281-4491282	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs10836109	chr11:4491308-4491309	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112791322	chr11:4491309-4491310	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs138476590	chr11:4491330-4491331	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs191457348	chr11:4491339-4491340	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs578151082	chr11:4491340-4491341	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs141854700	chr11:4491373-4491374	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs554536802	chr11:4491417-4491418	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs184724551	chr11:4491419-4491420	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs190462590	chr11:4491425-4491426	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs74054016	chr11:4491464-4491465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576094940	chr11:4491465-4491466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73425739	chr11:4491466-4491467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532020809	chr11:4491507-4491508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34583647	chr11:4491523-4491524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150188439	chr11:4491526-4491527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138685306	chr11:4491535-4491536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529812527	chr11:4491542-4491543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149382555	chr11:4491589-4491590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs193041201	chr11:4491625-4491626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77329353	chr11:4491641-4491642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111643298	chr11:4491646-4491647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571598403	chr11:4491654-4491655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544908705	chr11:4491658-4491659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377745279	chr11:4491662-4491663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139707798	chr11:4491673-4491674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74914071	chr11:4491726-4491727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143628221	chr11:4491738-4491739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113958654	chr11:4491783-4491784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs331501	chr11:4491786-4491787	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs148687221	chr11:4491806-4491807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs331502	chr11:4491832-4491833	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs576414484	chr11:4491890-4491891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201615065	chr11:4491920-4491921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117132910	chr11:4491965-4491966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112685244	chr11:4491974-4491975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76057932	chr11:4491983-4491984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113037797	chr11:4491984-4491985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570778555	chr11:4492005-4492006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563486292	chr11:4492011-4492012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4487400-4493000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:4488000-4496000	Weak transcription	Gastric	stomach
3	chr11:4488600-4501800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:4489600-4493000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr11:4490000-4493200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr11:4493000-4495600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:4493000-4495800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:4495600-4496000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:4495800-4497800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:4496000-4496200	Enhancers	Gastric	stomach
11	chr11:4496000-4496400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
12	chr11:4496400-4497000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:4497000-4501200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr11:4497800-4501200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr11:4499600-4500000	Enhancers	Placenta	Placenta
16	chr11:4499600-4500200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr11:4500000-4501800	Weak transcription	Placenta	Placenta
18	chr11:4500200-4501600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:4500800-4503200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:4500800-4503400	Enhancers	NHEK	skin
21	chr11:4501000-4503200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:4501000-4503200	Enhancers	HUVEC	blood vessel
23	chr11:4501200-4501600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr11:4501200-4502800	Enhancers	NHDF-Ad	bronchial
25	chr11:4501200-4503000	Enhancers	HMEC	breast
26	chr11:4501200-4503200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:4501200-4506000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:4501600-4501800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr11:4501600-4502000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:4501600-4502200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr11:4501600-4502800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:4501600-4503200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr11:4501600-4504200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr11:4501800-4502000	Enhancers	K562	blood
35	chr11:4501800-4502000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr11:4501800-4502200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:4501800-4502800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr11:4501800-4502800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:4501800-4502800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr11:4501800-4504400	Enhancers	Placenta	Placenta
41	chr11:4502000-4502200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr11:4502000-4502800	Enhancers	Osteobl	bone
43	chr11:4502200-4502600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr11:4502400-4502800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:4502600-4502800	Enhancers	K562	blood
46	chr11:4502600-4503000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:4502600-4503400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr11:4502800-4503000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:4502800-4503400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:4503000-4503400	Enhancers	Monocytes-CD14+_RO01746	blood

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