Variant report

Variant	rs11133483
Chromosome Location	chr4:57974271-57974272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:57972428-57977904	IMR90	lung:	n/a	n/a
2	CHD1	chr4:57973519-57977830	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000238541	TF binding region
IGFBP7-AS1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10004910	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11133482	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13108835	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13124681	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13129156	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13147020	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4075349	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6554428	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6825609	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7661524	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7670481	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7681360	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9993153	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57956800-57974400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:57957000-57974600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:57957200-57975200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:57958200-57975200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:57958200-57975400	Weak transcription	Small Intestine	intestine
6	chr4:57966200-57975200	Weak transcription	Lung	lung
7	chr4:57969600-57974800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:57969600-57975000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:57969600-57975400	Weak transcription	Colonic Mucosa	Colon
10	chr4:57969800-57975400	Weak transcription	Fetal Lung	lung
11	chr4:57970200-57974400	Weak transcription	Fetal Stomach	stomach
12	chr4:57970400-57975600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:57971400-57976200	Active TSS	Stomach Smooth Muscle	stomach
14	chr4:57971600-57974400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:57971600-57975000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:57971600-57975200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:57971800-57975000	Weak transcription	HSMM	muscle
18	chr4:57972000-57974400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:57972000-57974400	Weak transcription	NHLF	lung
20	chr4:57972000-57975000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:57972200-57975200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:57972400-57977800	Active TSS	Aorta	Aorta
23	chr4:57973000-57974400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
24	chr4:57973000-57974800	Transcr. at gene 5' and 3'	Osteobl	bone
25	chr4:57973200-57974600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:57973200-57975400	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr4:57973200-57977000	Active TSS	Fetal Kidney	kidney
28	chr4:57973200-57977600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr4:57973200-57977600	Active TSS	Psoas Muscle	Psoas
30	chr4:57973200-57977800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr4:57973400-57975000	Active TSS	Liver	Liver
32	chr4:57973400-57975000	Weak transcription	NHDF-Ad	bronchial
33	chr4:57973400-57975400	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr4:57973400-57975600	Active TSS	Adipose Nuclei	Adipose
35	chr4:57973400-57976600	Weak transcription	Fetal Heart	heart
36	chr4:57973400-57977200	Active TSS	Brain Hippocampus Middle	brain
37	chr4:57973400-57977600	Active TSS	Left Ventricle	heart
38	chr4:57973600-57974400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:57973600-57974400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:57973600-57974400	Enhancers	Colon Smooth Muscle	Colon
41	chr4:57973600-57974400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:57973600-57974800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:57973600-57975000	Weak transcription	Brain Substantia Nigra	brain
44	chr4:57973600-57975200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:57973600-57975200	Active TSS	Fetal Muscle Leg	muscle
46	chr4:57973600-57975200	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr4:57973600-57977600	Active TSS	Right Ventricle	heart
48	chr4:57973600-57977800	Active TSS	Ovary	ovary
49	chr4:57973600-57977800	Active TSS	Right Atrium	heart
50	chr4:57973800-57974400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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