Variant report

Variant	rs17051577
Chromosome Location	chr4:53453205-53453206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:53452156..53453997-chr4:53455774..53458471,2	K562	blood:
2	chr4:53452533..53455153-chr4:53585928..53588744,2	MCF-7	breast:
3	chr4:53451777..53454260-chr4:53456317..53457945,2	MCF-7	breast:
4	chr4:53452797..53454619-chr4:53577353..53579574,3	MCF-7	breast:
5	chr4:53447852..53450794-chr4:53452363..53455044,2	K562	blood:

Variant related genes	Relation type
ENSG00000248375	Chromatin interaction
ENSG00000212588	Chromatin interaction
ENSG00000264585	Chromatin interaction
ENSG00000226950	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1053437	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs17051569	0.83[AMR][1000 genomes]
rs17051574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051581	1.00[AMR][1000 genomes]
rs17051587	0.83[AMR][1000 genomes]
rs17051624	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051635	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051645	0.83[AMR][1000 genomes]
rs2898678	0.83[AMR][1000 genomes]
rs61704546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61761593	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73135519	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152438	1.00[AMR][1000 genomes]
rs73152440	0.85[AMR][1000 genomes]
rs73152475	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152476	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv482581	chr4:53310749-53480710	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS 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	9 gene(s)	inside rSNPs	diseases
3	nsv1000931	chr4:53420849-53689319	Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv537093	chr4:53420849-53689319	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv948860	chr4:53421172-53675549	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53439000-53461000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:53444200-53454000	Weak transcription	Right Ventricle	heart
3	chr4:53448000-53454600	Weak transcription	Left Ventricle	heart
4	chr4:53449400-53459600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:53451000-53455000	Enhancers	Fetal Heart	heart
6	chr4:53451800-53453800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:53451800-53454000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:53451800-53454200	Weak transcription	Aorta	Aorta
9	chr4:53451800-53454400	Weak transcription	Placenta	Placenta
10	chr4:53451800-53456800	Enhancers	HSMMtube	muscle
11	chr4:53451800-53458600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:53451800-53462600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:53451800-53462800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:53451800-53501400	Weak transcription	Small Intestine	intestine
15	chr4:53452000-53454600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:53452200-53457000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:53452400-53454400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:53452400-53459400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:53452400-53460800	Weak transcription	Fetal Lung	lung
20	chr4:53452400-53461000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:53452400-53462600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:53452600-53458000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:53452600-53458200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:53452600-53460600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:53452600-53462800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:53453000-53454400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:53453000-53485400	Weak transcription	Psoas Muscle	Psoas

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