Variant report

Variant	rs4752848
Chromosome Location	chr11:47584600-47584601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr11:47584588-47584805	K562	blood:	n/a	n/a
2	JUN	chr11:47584495-47585003	K562	blood:	n/a	n/a
3	JUND	chr11:47584570-47584866	K562	blood:	n/a	n/a
4	POLR2A	chr11:47584591-47584654	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47584600-47584650	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:47584600-47584650	Jurkat	blood:	n/a
3	chr11:47584600-47584650	K562	blood:	n/a
4	chr11:47584600-47584650	HEEpiC	esophagus:	n/a
5	chr11:47584600-47584650	AG04449	skin:	fetal
6	chr11:47584600-47584650	SK-N-SH	brain:	n/a
7	chr11:47584600-47584650	ProgFib	skin:	n/a
8	chr11:47584600-47584650	GM12878	blood:	n/a
9	chr11:47584600-47584650	U87	brain:	n/a
10	chr11:47584600-47584650	HCM	heart:	n/a
11	chr11:47584600-47584650	HMEC	breast:	n/a
12	chr11:47584600-47584650	HCPEpiC	choroid plexus:	n/a
13	chr11:47584600-47584650	GM12891	blood:	n/a
14	chr11:47584600-47584650	LNCaP	prostate:	n/a
15	chr11:47584600-47584650	BE2_C	brain:	n/a
16	chr11:47584600-47584650	CMK	blood:	n/a
17	chr11:47584600-47584650	NT2-D1	testis:	n/a
18	chr11:47584600-47584650	AG09319	gingival:	n/a
19	chr11:47584600-47584650	RPTEC	kidney:	n/a
20	chr11:47584600-47584650	ECC-1	luminal epithelium:	n/a
21	chr11:47584600-47584650	GM12892	blood:	n/a
22	chr11:47584600-47584650	A549	lung:	n/a
23	chr11:47584600-47584650	AG04450	lung:	fetal
24	chr11:47584600-47584650	Hela-S3	cervix:	n/a
25	chr11:47584600-47584650	SKMC	muscle:	n/a
26	chr11:47584600-47584650	H1-hESC	embryonic stem cell:	embryo
27	chr11:47584600-47584650	HRCEpiC	kidney:	n/a
28	chr11:47584600-47584650	HRE	kidney:	n/a
29	chr11:47584600-47584650	HepG2	liver:	n/a
30	chr11:47584600-47584650	MCF-7	breast:	n/a
31	chr11:47584600-47584650	NHDF-neo	bronchial:	n/a
32	chr11:47584600-47584650	GM19239	blood:	n/a
33	chr11:47584600-47584650	HUVEC	blood vessel:	n/a
34	chr11:47584600-47584650	ovcar-3	ovarian:	n/a
35	chr11:47584600-47584650	PFSK-1	brain:	n/a
36	chr11:47584600-47584650	AG09309	skin:	n/a
37	chr11:47584600-47584650	HCT-116	colon:	n/a
38	chr11:47584600-47584650	HNPCEpiC	eye:	n/a
39	chr11:47584600-47584650	MCF10A-Er-Src	breast:	n/a
40	chr11:47584600-47584650	AoSMC	blood vessel:	n/a
41	chr11:47584600-47584650	HL-60	blood:	n/a
42	chr11:47584600-47584650	GM06990	blood:	n/a
43	chr11:47584600-47584650	NB4	blood:	n/a
44	chr11:47584600-47584650	BJ	skin:	n/a
45	chr11:47584600-47584650	PrEC	prostate:	n/a
46	chr11:47584600-47584650	SK-N-MC	brain:	n/a
47	chr11:47584600-47584650	IMR90	lung:	fetal
48	chr11:47584600-47584650	NHBE	bronchial:	n/a
49	chr11:47584600-47584650	HIPEpiC	eye:	n/a
50	chr11:47584600-47584650	Hepatocyte	liver:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47582289..47584764-chr11:47585260..47588295,3	K562	blood:
2	chr11:47574386..47578054-chr11:47581653..47584758,3	K562	blood:
3	chr11:47576405..47578054-chr11:47582418..47584611,2	K562	blood:
4	chr11:47571923..47578059-chr11:47583779..47591283,17	MCF-7	breast:

No data

Variant related genes	Relation type
PTPMT1	TF binding region
NDUFS3	TF binding region
PTPMT1	CpG island
NDUFS3	CpG island
ENSG00000149187	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000213619	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10742816	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11039300	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1474056	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17791016	0.80[EUR][1000 genomes]
rs2138767	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4147730	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752786	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57828885	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58119589	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59837204	0.88[EUR][1000 genomes]
rs7115371	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7116299	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7120737	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7931089	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7944532	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7945911	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7952204	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47575200-47586000	Weak transcription	HSMMtube	muscle
2	chr11:47575200-47586200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:47575200-47586200	Weak transcription	Placenta	Placenta
4	chr11:47575200-47586400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:47575200-47586400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:47575200-47586400	Weak transcription	Psoas Muscle	Psoas
7	chr11:47575200-47586600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:47575200-47586600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:47575200-47586600	Weak transcription	Gastric	stomach
10	chr11:47575200-47586600	Weak transcription	Ovary	ovary
11	chr11:47575400-47586000	Weak transcription	Primary B cells from cord blood	blood
12	chr11:47575400-47586200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:47575400-47586200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:47575400-47586200	Weak transcription	Fetal Muscle Leg	muscle
15	chr11:47575400-47586200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:47575400-47586200	Weak transcription	A549	lung
17	chr11:47575400-47586200	Weak transcription	NHEK	skin
18	chr11:47575400-47586400	Weak transcription	Brain Angular Gyrus	brain
19	chr11:47575400-47586400	Weak transcription	Fetal Stomach	stomach
20	chr11:47575400-47586400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:47575400-47586400	Weak transcription	NH-A	brain
22	chr11:47575600-47585800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:47575600-47585800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr11:47575600-47586200	Weak transcription	NHDF-Ad	bronchial
25	chr11:47575600-47586600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:47575800-47586200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:47576000-47586000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:47576200-47585800	Weak transcription	Dnd41	blood
29	chr11:47576200-47586200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:47578400-47586600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:47582200-47585800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:47582200-47585800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:47582200-47586000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:47582400-47585800	Weak transcription	Hela-S3	cervix
35	chr11:47582400-47586000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:47582400-47586200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:47582400-47586200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:47582400-47586200	Weak transcription	Fetal Brain Female	brain
39	chr11:47582400-47586400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:47582400-47586400	Weak transcription	Adipose Nuclei	Adipose
41	chr11:47582400-47586400	Weak transcription	Osteobl	bone
42	chr11:47582600-47585400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:47582600-47586400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:47582600-47586400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr11:47582800-47586200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr11:47584000-47585000	Enhancers	K562	blood
47	chr11:47584400-47584800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:47584400-47585000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:47584400-47586200	Weak transcription	Rectal Mucosa Donor 29	rectum

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