Variant report

Variant	rs2170690
Chromosome Location	chr4:53889532-53889533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:53888855..53891159-chr4:53891237..53893282,2	K562	blood:
2	chr4:53888762..53890848-chr4:53894681..53896257,2	K562	blood:
3	chr4:53889113..53891647-chr4:53916147..53918959,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10008751	1.00[AMR][1000 genomes]
rs1038356	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13141154	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs1564678	1.00[AMR][1000 genomes]
rs1564679	1.00[AMR][1000 genomes]
rs2368380	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2411288	1.00[AMR][1000 genomes]
rs2898682	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4450989	0.87[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864710	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6816741	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6826226	0.81[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7663460	1.00[AMR][1000 genomes]
rs7680196	0.87[YRI][hapmap];0.81[AFR][1000 genomes];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	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
2	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
3	nsv508280	chr4:53825060-53907661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53879400-53889600	Weak transcription	Aorta	Aorta
2	chr4:53879800-53890000	Weak transcription	GM12878-XiMat	blood
3	chr4:53880400-53891800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:53880800-53892800	Weak transcription	Primary T cells from cord blood	blood
5	chr4:53883200-53896400	Weak transcription	Primary B cells from cord blood	blood
6	chr4:53884400-53889600	Enhancers	Ovary	ovary
7	chr4:53886200-53891200	Enhancers	Psoas Muscle	Psoas
8	chr4:53886200-53892400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:53886400-53892400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:53886800-53890000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:53886800-53890200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:53887000-53892400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:53887200-53892400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:53887800-53889600	Enhancers	Fetal Heart	heart
15	chr4:53888000-53890000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr4:53888000-53890600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr4:53888400-53892400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:53888600-53889600	Enhancers	Rectal Smooth Muscle	rectum
19	chr4:53888800-53889600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr4:53888800-53890000	Weak transcription	NHDF-Ad	bronchial
21	chr4:53889000-53894800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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