Variant report

Variant	nsv975825
Chromosome Location	chr11:4513443-4542901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:353)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:353 , 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	chr11:4514210-4514762	GM12878	blood:	n/a	n/a
3	BATF	chr11:4514308-4514557	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	chr11:4521640-4521844	A549	lung:	n/a	chr11:4521689-4521700
9	CEBPB	chr11:4521334-4521828	IMR90	lung:	n/a	chr11:4521689-4521700
10	CEBPB	chr11:4516863-4517063	K562	blood:	n/a	n/a
11	CEBPB	chr11:4540065-4540287	HepG2	liver:	n/a	chr11:4540117-4540130
12	CEBPB	chr11:4521534-4521859	HepG2	liver:	n/a	chr11:4521689-4521700
13	CEBPB	chr11:4521549-4521828	K562	blood:	n/a	chr11:4521689-4521700
14	CEBPB	chr11:4521600-4521789	H1-hESC	embryonic stem cell:	n/a	chr11:4521689-4521700
15	CTCF	chr11:4514526-4514728	T-47D	breast:	n/a	n/a
16	CTCF	chr11:4514480-4514630	HCT-116	colon:	n/a	n/a
17	CTCF	chr11:4514510-4514799	GM12892	blood:	n/a	n/a
18	CTCF	chr11:4514600-4514750	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr11:4514460-4514610	GM12871	blood:	n/a	n/a
20	CTCF	chr11:4514534-4514806	GM10266	blood:	n/a	n/a
21	CTCF	chr11:4514391-4514767	A549	lung:	n/a	n/a
22	CTCF	chr11:4516008-4516106	GM20000	blood:	n/a	n/a
23	CTCF	chr11:4514580-4514730	GM12864	blood:	n/a	n/a
24	CTCF	chr11:4514985-4515036	GM19238	blood:	n/a	n/a
25	CTCF	chr11:4514158-4515264	SK-N-SH	brain:	n/a	n/a
26	CTCF	chr11:4514500-4514650	WI-38	lung:	n/a	n/a
27	CTCF	chr11:4514489-4514810	Gliobla	brain:	n/a	n/a
28	CTCF	chr11:4514480-4514630	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:4514480-4514630	HFF	foreskin:	n/a	n/a
30	CTCF	chr11:4514480-4514630	HAc	cerebellar:	n/a	n/a
31	CTCF	chr11:4514600-4514750	HEK293	kidney:	n/a	n/a
32	CTCF	chr11:4514551-4514779	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr11:4514441-4514922	MCF-7	breast:	n/a	n/a
34	CTCF	chr11:4514384-4514855	MCF-7	breast:	n/a	n/a
35	CTCF	chr11:4514341-4514810	K562	blood:	n/a	n/a
36	CTCF	chr11:4514543-4514789	ProgFib	skin:	n/a	n/a
37	CTCF	chr11:4514373-4514936	A549	lung:	n/a	n/a
38	CTCF	chr11:4514500-4514650	GM12866	blood:	n/a	n/a
39	CTCF	chr11:4514560-4514710	BJ	skin:	n/a	n/a
40	CTCF	chr11:4514580-4514730	HRE	kidney:	n/a	n/a
41	CTCF	chr11:4514760-4514910	K562	blood:	n/a	n/a
42	CTCF	chr11:4514461-4514790	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr11:4514940-4515090	GM12874	blood:	n/a	n/a
44	CTCF	chr11:4514920-4515070	NHDF-neo	bronchial:	n/a	n/a
45	CTCF	chr11:4514553-4514778	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr11:4514550-4514813	LNCaP	prostate:	n/a	n/a
47	CTCF	chr11:4514535-4514785	GM20000	blood:	n/a	n/a
48	CTCF	chr11:4514920-4515070	HPF	lung:	n/a	n/a
49	CTCF	chr11:4514940-4515090	HMEC	breast:	n/a	n/a
50	CTCF	chr11:4514489-4514815	GM19238	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:4208123..4209247-chr11:4514343..4515119,4	MCF-7	breast:
2	chr11:4208460..4209382-chr11:4513705..4515541,8	MCF-7	breast:
3	chr11:4531179..4533009-chr11:4535130..4536667,2	K562	blood:
4	chr11:4531179..4533009-chr11:4535130..4536667,2	K562	blood:
5	chr11:4535006..4537782-chr11:4538961..4542552,3	K562	blood:

No data

Variant related genes	Relation type
OR52M2P	TF binding region
ENSG00000226616	chromatin interactions
ENSG00000254480	chromatin interactions

Extended variants
information (count: 1034 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1034 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184936437	chr11:4513468-4513469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567198246	chr11:4513480-4513481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140564197	chr11:4513487-4513488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532062653	chr11:4513494-4513495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113883649	chr11:4513502-4513503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs331512	chr11:4513537-4513538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs189294155	chr11:4513577-4513578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536246719	chr11:4513587-4513588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374577270	chr11:4513595-4513596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548143360	chr11:4513629-4513630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80172320	chr11:4513656-4513657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs167947	chr11:4513664-4513665	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs114171072	chr11:4513686-4513687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577147118	chr11:4513731-4513732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs230548	chr11:4513757-4513758	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs78941189	chr11:4513801-4513802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554332008	chr11:4513803-4513804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571409194	chr11:4513836-4513837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75061393	chr11:4513859-4513860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541184690	chr11:4513880-4513881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371166253	chr11:4513894-4513895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553630603	chr11:4513949-4513950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556504710	chr11:4513953-4513954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543018226	chr11:4513969-4513970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73425799	chr11:4513972-4513973	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576670773	chr11:4513985-4513986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150451381	chr11:4513987-4513988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377183889	chr11:4513992-4513993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185569468	chr11:4514025-4514026	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs539399801	chr11:4514037-4514038	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs557729003	chr11:4514082-4514083	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs76338624	chr11:4514083-4514084	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs559029998	chr11:4514086-4514087	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs555745019	chr11:4514097-4514098	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs138257322	chr11:4514109-4514110	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs548163268	chr11:4514110-4514111	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs569575095	chr11:4514114-4514115	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs2554920	chr11:4514170-4514171	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2566283	chr11:4514174-4514175	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564464025	chr11:4514181-4514182	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs570633858	chr11:4514201-4514202	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs138835183	chr11:4514212-4514213	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs111644063	chr11:4514248-4514249	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs149105516	chr11:4514265-4514266	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs202155635	chr11:4514266-4514267	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs370053514	chr11:4514272-4514273	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs189408505	chr11:4514307-4514308	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs554927534	chr11:4514319-4514320	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs576374682	chr11:4514323-4514324	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs544064464	chr11:4514334-4514335	Flanking Active TSS Enhancers Active TSS	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4504200-4514000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:4507800-4513800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr11:4508400-4513600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:4513600-4514000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:4513600-4514200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:4513600-4514200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr11:4513600-4514400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr11:4513600-4514400	Enhancers	NHDF-Ad	bronchial
9	chr11:4513600-4514600	Enhancers	Fetal Intestine Small	intestine
10	chr11:4513800-4514200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:4513800-4514200	Enhancers	Fetal Intestine Large	intestine
12	chr11:4514000-4514200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr11:4514000-4514200	Enhancers	Brain Hippocampus Middle	brain
14	chr11:4514000-4514400	Enhancers	GM12878-XiMat	blood
15	chr11:4514000-4514600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:4514000-4514600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:4514000-4514600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr11:4514000-4514600	Enhancers	Placenta	Placenta
19	chr11:4514000-4514600	Enhancers	Ovary	ovary
20	chr11:4514200-4514400	Enhancers	Fetal Heart	heart
21	chr11:4514200-4514400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr11:4514200-4514600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:4514200-4514600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr11:4514200-4514600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr11:4514200-4514600	Enhancers	Adipose Nuclei	Adipose
26	chr11:4514200-4514600	Flanking Active TSS	Liver	Liver
27	chr11:4514200-4514600	Active TSS	Brain Cingulate Gyrus	brain
28	chr11:4514200-4514600	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr11:4514200-4514600	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr11:4514200-4514600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr11:4514200-4514600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr11:4514200-4514600	Active TSS	A549	lung
33	chr11:4514200-4514600	Enhancers	HUVEC	blood vessel
34	chr11:4514200-4514600	Enhancers	K562	blood
35	chr11:4514200-4514600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr11:4514400-4514600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:4514400-4514600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr11:4514400-4514600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:4514400-4514600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:4514400-4514600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr11:4514400-4514600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:4514400-4514600	Flanking Active TSS	GM12878-XiMat	blood
43	chr11:4514400-4514600	Flanking Active TSS	NHDF-Ad	bronchial
44	chr11:4514400-4514600	Enhancers	NHLF	lung
45	chr11:4514400-4516400	Weak transcription	Fetal Heart	heart
46	chr11:4514600-4517000	Weak transcription	Placenta	Placenta
47	chr11:4514600-4517400	Weak transcription	Ovary	ovary
48	chr11:4514600-4517800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:4514600-4518000	Weak transcription	Liver	Liver
50	chr11:4516400-4518800	Enhancers	Fetal Heart	heart

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