Variant report

Variant	rs17003217
Chromosome Location	chr4:79358620-79358621
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	GATA3	chr4:79358524-79359552	SK-N-SH	brain:	n/a	chr4:79358936-79358945 chr4:79359140-79359149
2	EBF1	chr4:79358565-79358917	GM12878	blood:	n/a	chr4:79358720-79358729 chr4:79358719-79358730

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79352976..79355993-chr4:79356114..79359025,3	K562	blood:

Variant related genes	Relation type
FRAS1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17003128	1.00[AMR][1000 genomes]
rs17003130	1.00[AMR][1000 genomes]
rs17003157	1.00[AMR][1000 genomes]
rs17003170	1.00[AMR][1000 genomes]
rs17003190	1.00[AMR][1000 genomes]
rs17003229	1.00[AMR][1000 genomes]
rs17003249	1.00[AMR][1000 genomes]
rs17003255	1.00[AMR][1000 genomes]
rs17003269	1.00[AMR][1000 genomes]
rs17003281	1.00[AMR][1000 genomes]
rs17003344	1.00[AMR][1000 genomes]
rs1995061	1.00[AMR][1000 genomes]
rs34358235	1.00[AMR][1000 genomes]
rs36067699	1.00[AMR][1000 genomes]
rs6533643	1.00[AMR][1000 genomes]
rs6830611	1.00[AMR][1000 genomes]
rs6843017	1.00[AMR][1000 genomes]
rs6849354	1.00[AMR][1000 genomes]
rs7670643	1.00[AMR][1000 genomes]
rs7678493	1.00[AMR][1000 genomes]
rs7690611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7691528	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79320000-79400200	Weak transcription	Psoas Muscle	Psoas
2	chr4:79329000-79362000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:79332600-79362000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:79333200-79391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:79339000-79374200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:79339400-79373000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:79339600-79360600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:79339600-79360600	Weak transcription	HMEC	breast
9	chr4:79339800-79370400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:79339800-79370400	Weak transcription	Fetal Lung	lung
11	chr4:79339800-79374800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:79340000-79374200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:79340400-79362800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:79341800-79372600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:79343200-79431800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:79344200-79370800	Weak transcription	Fetal Heart	heart
17	chr4:79344200-79375600	Weak transcription	Fetal Stomach	stomach
18	chr4:79348400-79378000	Weak transcription	Right Ventricle	heart
19	chr4:79349600-79362000	Weak transcription	Right Atrium	heart
20	chr4:79353000-79361600	Weak transcription	HepG2	liver
21	chr4:79354000-79360000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:79354000-79362000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:79354000-79362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:79354000-79391000	Weak transcription	Left Ventricle	heart
25	chr4:79354000-79401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:79354200-79359600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:79354200-79359800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:79354200-79359800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:79354200-79363000	Weak transcription	Fetal Intestine Small	intestine
30	chr4:79354200-79391000	Weak transcription	Fetal Kidney	kidney
31	chr4:79354400-79360000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr4:79354400-79385200	Weak transcription	Pancreas	Pancrea
33	chr4:79354800-79369200	Weak transcription	Fetal Intestine Large	intestine
34	chr4:79355200-79359600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:79356000-79359000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:79356400-79359600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:79356600-79361200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:79357800-79359200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:79358000-79358800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr4:79358000-79360200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:79358200-79360000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:79358400-79359000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:79358400-79364800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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