Variant report

Variant	rs1612191
Chromosome Location	chr4:57724320-57724321
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57721960..57724610-chr4:57727850..57729701,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10003229	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1622434	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623306	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2412760	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2412770	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2458552	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28605409	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28625367	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3106530	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4355453	0.86[EUR][1000 genomes]
rs58228066	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6839385	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6849007	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs708547	0.80[AMR][1000 genomes]
rs71609616	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs751356	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7667084	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675979	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs781545	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs781551	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781553	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs781554	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781556	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs781667	0.89[AMR][1000 genomes];0.87[ASN][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	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	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57722000-57725000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:57722800-57724600	Enhancers	Adipose Nuclei	Adipose
3	chr4:57722800-57725000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:57723400-57724600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:57723400-57724600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr4:57723400-57725000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:57723400-57727400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:57723400-57727600	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:57723600-57725200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:57723800-57725000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:57723800-57725200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr4:57724200-57724400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:57724200-57724600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:57724200-57724600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:57724200-57724600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:57724200-57725000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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