Variant report

Variant	rs56707979
Chromosome Location	chr1:184627431-184627432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs16823189	1.00[EUR][1000 genomes]
rs16823192	1.00[EUR][1000 genomes]
rs16823216	1.00[EUR][1000 genomes]
rs16823452	1.00[EUR][1000 genomes]
rs16823480	1.00[EUR][1000 genomes]
rs16823513	1.00[EUR][1000 genomes]
rs2181240	1.00[EUR][1000 genomes]
rs2224030	1.00[EUR][1000 genomes]
rs28521358	1.00[EUR][1000 genomes]
rs35543943	1.00[EUR][1000 genomes]
rs56385425	1.00[EUR][1000 genomes]
rs56796054	1.00[EUR][1000 genomes]
rs58307611	1.00[EUR][1000 genomes]
rs58814142	1.00[EUR][1000 genomes]
rs61372488	1.00[EUR][1000 genomes]
rs6664204	1.00[EUR][1000 genomes]
rs6668105	1.00[EUR][1000 genomes]
rs6670740	1.00[EUR][1000 genomes]
rs6694683	1.00[EUR][1000 genomes]
rs73046716	1.00[EUR][1000 genomes]
rs73046783	1.00[EUR][1000 genomes]
rs73046796	1.00[EUR][1000 genomes]
rs73063529	1.00[EUR][1000 genomes]
rs73063555	1.00[EUR][1000 genomes]
rs7413163	1.00[EUR][1000 genomes]
rs74132003	1.00[EUR][1000 genomes]
rs74132025	1.00[EUR][1000 genomes]
rs74132034	1.00[EUR][1000 genomes]
rs74132036	1.00[EUR][1000 genomes]
rs74132037	1.00[EUR][1000 genomes]
rs74132038	1.00[EUR][1000 genomes]
rs74132050	1.00[EUR][1000 genomes]
rs74134139	1.00[EUR][1000 genomes]
rs7521888	1.00[EUR][1000 genomes]
rs7526101	1.00[EUR][1000 genomes]
rs7528332	1.00[EUR][1000 genomes]
rs7541371	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised 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	69 gene(s)	inside rSNPs	diseases
5	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv947339	chr1:184618714-184641256	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184624800-184629800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:184625400-184633000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:184625600-184628200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:184625800-184631000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:184625800-184632800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:184626400-184632600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:184626600-184632600	Weak transcription	Brain Substantia Nigra	brain
8	chr1:184626600-184632800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:184626800-184632800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:184626800-184633000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:184627400-184632600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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