Variant report

Variant	nsv1043963
Chromosome Location	chr11:4512760-4544164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:356)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:356 , 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	chr11:4514325-4514757	GM12878	blood:	n/a	n/a
5	BCL11A	chr11:4514425-4514768	GM12878	blood:	n/a	n/a
6	BHLHE40	chr11:4514088-4514588	K562	blood:	n/a	n/a
7	BHLHE40	chr11:4514262-4514648	GM12878	blood:	n/a	n/a
8	CEBPB	chr11:4544032-4544147	K562	blood:	n/a	n/a
9	CEBPB	chr11:4540065-4540287	HepG2	liver:	n/a	chr11:4540117-4540130
10	CEBPB	chr11:4521600-4521789	H1-hESC	embryonic stem cell:	n/a	chr11:4521689-4521700
11	CEBPB	chr11:4521334-4521828	IMR90	lung:	n/a	chr11:4521689-4521700
12	CEBPB	chr11:4521640-4521844	A549	lung:	n/a	chr11:4521689-4521700
13	CEBPB	chr11:4521549-4521828	K562	blood:	n/a	chr11:4521689-4521700
14	CEBPB	chr11:4521534-4521859	HepG2	liver:	n/a	chr11:4521689-4521700
15	CEBPB	chr11:4516863-4517063	K562	blood:	n/a	n/a
16	CTCF	chr11:4514580-4514870	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr11:4514528-4514802	NHEK	skin:	n/a	n/a
18	CTCF	chr11:4514560-4514710	GM12864	blood:	n/a	n/a
19	CTCF	chr11:4518905-4518963	ProgFib	skin:	n/a	n/a
20	CTCF	chr11:4514580-4514730	Caco-2	colon:	n/a	n/a
21	CTCF	chr11:4514480-4514630	GM12873	blood:	n/a	n/a
22	CTCF	chr11:4514580-4514730	HRE	kidney:	n/a	n/a
23	CTCF	chr11:4514556-4514783	MCF-7	breast:	n/a	n/a
24	CTCF	chr11:4514580-4514730	HMEC	breast:	n/a	n/a
25	CTCF	chr11:4514353-4514811	GM12891	blood:	n/a	n/a
26	CTCF	chr11:4514500-4514650	HVMF	connective:	n/a	n/a
27	CTCF	chr11:4514938-4514962	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr11:4514940-4515090	HMEC	breast:	n/a	n/a
29	CTCF	chr11:4514480-4514630	RPTEC	kidney:	n/a	n/a
30	CTCF	chr11:4514600-4514750	NHEK	skin:	n/a	n/a
31	CTCF	chr11:4514384-4514855	MCF-7	breast:	n/a	n/a
32	CTCF	chr11:4514528-4514793	GM19239	blood:	n/a	n/a
33	CTCF	chr11:4514420-4514793	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr11:4514960-4515110	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr11:4514480-4514630	AG04449	skin:	n/a	n/a
36	CTCF	chr11:4514600-4514750	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr11:4514580-4514730	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr11:4514480-4514630	SAEC	small airway:	n/a	n/a
39	CTCF	chr11:4514537-4514812	Lung_OC	lung:	n/a	n/a
40	CTCF	chr11:4514487-4514772	HepG2	liver:	n/a	n/a
41	CTCF	chr11:4514480-4514630	WI-38	lung:	n/a	n/a
42	CTCF	chr11:4514920-4515070	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr11:4514514-4514766	A549	lung:	n/a	n/a
44	CTCF	chr11:4514800-4514950	RPTEC	kidney:	n/a	n/a
45	CTCF	chr11:4514940-4515090	GM12873	blood:	n/a	n/a
46	CTCF	chr11:4514580-4514730	SAEC	small airway:	n/a	n/a
47	CTCF	chr11:4516008-4516106	GM20000	blood:	n/a	n/a
48	CTCF	chr11:4514580-4514730	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr11:4514560-4514710	GM12801	blood:	n/a	n/a
50	CTCF	chr11:4514535-4514785	GM20000	blood:	n/a	n/a

No data

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

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

No data

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

Extended variants
information (count: 1142 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1142 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577811107	chr11:4512768-4512769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542541122	chr11:4512783-4512784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540131330	chr11:4512817-4512818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1298284	chr11:4512832-4512833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187839679	chr11:4512849-4512850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544352913	chr11:4512867-4512868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375294559	chr11:4512871-4512872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186694	chr11:4512872-4512873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545414532	chr11:4512873-4512874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190828600	chr11:4512883-4512884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147772183	chr11:4512884-4512885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183872555	chr11:4512898-4512899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567722529	chr11:4512932-4512933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188870875	chr11:4512941-4512942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191935207	chr11:4513006-4513007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184275077	chr11:4513041-4513042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562015919	chr11:4513055-4513056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553329814	chr11:4513071-4513072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565743537	chr11:4513099-4513100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187463072	chr11:4513107-4513108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536108037	chr11:4513132-4513133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141080309	chr11:4513176-4513177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576111912	chr11:4513197-4513198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531052183	chr11:4513198-4513199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543610469	chr11:4513215-4513216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372419581	chr11:4513222-4513223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16934965	chr11:4513240-4513241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544441447	chr11:4513241-4513242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545550045	chr11:4513254-4513255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191656660	chr11:4513288-4513289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56051292	chr11:4513301-4513302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564706402	chr11:4513314-4513315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs331511	chr11:4513387-4513388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs150956036	chr11:4513414-4513415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184936437	chr11:4513468-4513469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567198246	chr11:4513480-4513481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140564197	chr11:4513487-4513488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532062653	chr11:4513494-4513495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113883649	chr11:4513502-4513503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs331512	chr11:4513537-4513538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs189294155	chr11:4513577-4513578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536246719	chr11:4513587-4513588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374577270	chr11:4513595-4513596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548143360	chr11:4513629-4513630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80172320	chr11:4513656-4513657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs167947	chr11:4513664-4513665	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs114171072	chr11:4513686-4513687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577147118	chr11:4513731-4513732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs230548	chr11:4513757-4513758	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs78941189	chr11:4513801-4513802	Enhancers Weak transcription	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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