Variant report

Variant	rs11133484
Chromosome Location	chr4:57975328-57975329
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
3	POLR2A	chr4:57975161-57977444	HUVEC	blood vessel:	n/a	n/a
4	MXI1	chr4:57974888-57977913	IMR90	lung:	n/a	n/a
5	POLR2A	chr4:57975306-57975367	HUVEC	blood vessel:	n/a	n/a

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

Extended variants
information (count: 16 )
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];0.95[ASN][1000 genomes]
rs11133482	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11133483	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];0.87[ASN][1000 genomes]
rs13124681	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13129156	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[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];0.94[ASN][1000 genomes]
rs6554428	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6825609	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7661524	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[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];0.98[ASN][1000 genomes]
rs9993153	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3324890	chr4:57975020-57977568	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57958200-57975400	Weak transcription	Small Intestine	intestine
2	chr4:57969600-57975400	Weak transcription	Colonic Mucosa	Colon
3	chr4:57969800-57975400	Weak transcription	Fetal Lung	lung
4	chr4:57970400-57975600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:57971400-57976200	Active TSS	Stomach Smooth Muscle	stomach
6	chr4:57972400-57977800	Active TSS	Aorta	Aorta
7	chr4:57973200-57975400	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr4:57973200-57977000	Active TSS	Fetal Kidney	kidney
9	chr4:57973200-57977600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr4:57973200-57977600	Active TSS	Psoas Muscle	Psoas
11	chr4:57973200-57977800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr4:57973400-57975400	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr4:57973400-57975600	Active TSS	Adipose Nuclei	Adipose
14	chr4:57973400-57976600	Weak transcription	Fetal Heart	heart
15	chr4:57973400-57977200	Active TSS	Brain Hippocampus Middle	brain
16	chr4:57973400-57977600	Active TSS	Left Ventricle	heart
17	chr4:57973600-57977600	Active TSS	Right Ventricle	heart
18	chr4:57973600-57977800	Active TSS	Ovary	ovary
19	chr4:57973600-57977800	Active TSS	Right Atrium	heart
20	chr4:57973800-57975400	Active TSS	Fetal Muscle Trunk	muscle
21	chr4:57973800-57975400	Weak transcription	Pancreas	Pancrea
22	chr4:57973800-57975400	Weak transcription	Spleen	Spleen
23	chr4:57973800-57975600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:57973800-57977000	Active TSS	HSMMtube	muscle
25	chr4:57973800-57977400	Active TSS	Brain Anterior Caudate	brain
26	chr4:57974000-57976400	Active TSS	NH-A	brain
27	chr4:57974200-57975800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:57974200-57977000	Active TSS	A549	lung
29	chr4:57974200-57977800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:57974400-57975400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:57974400-57975400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:57974400-57975400	Active TSS	Fetal Stomach	stomach
33	chr4:57974400-57975600	Flanking Active TSS	HUVEC	blood vessel
34	chr4:57974400-57976800	Active TSS	Muscle Satellite Cultured Cells	--
35	chr4:57974400-57976800	Active TSS	NHLF	lung
36	chr4:57974400-57977600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:57974600-57975400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:57974600-57975600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:57974600-57975800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:57974600-57975800	Active TSS	HMEC	breast
41	chr4:57974600-57976000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:57974600-57976600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:57974600-57977000	Active TSS	NHEK	skin
44	chr4:57974600-57977400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:57974800-57976000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:57974800-57976800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr4:57974800-57976800	Active TSS	Osteobl	bone
48	chr4:57974800-57977400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:57975000-57975400	Active TSS	Duodenum Mucosa	Duodenum
50	chr4:57975000-57975600	Bivalent/Poised TSS	Liver	Liver

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