Variant report

Variant	rs3012084
Chromosome Location	chr1:79309923-79309924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:79281703..79284146-chr1:79308021..79310225,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11162565	0.93[ASN][1000 genomes]
rs12026347	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12037077	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12037897	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12401934	0.96[ASN][1000 genomes]
rs1248483	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1489398	0.93[ASN][1000 genomes]
rs1532102	0.85[ASN][1000 genomes]
rs1552571	0.96[ASN][1000 genomes]
rs1552572	0.96[ASN][1000 genomes]
rs1552573	0.96[ASN][1000 genomes]
rs1632786	0.90[ASN][1000 genomes]
rs1686340	0.96[ASN][1000 genomes]
rs1686342	0.93[ASN][1000 genomes]
rs1780709	0.94[ASN][1000 genomes]
rs1780731	0.96[ASN][1000 genomes]
rs1937016	0.92[ASN][1000 genomes]
rs1968952	0.83[ASN][1000 genomes]
rs1968953	0.83[ASN][1000 genomes]
rs1968954	0.81[ASN][1000 genomes]
rs2054927	0.93[ASN][1000 genomes]
rs2352520	0.97[ASN][1000 genomes]
rs2801027	0.96[ASN][1000 genomes]
rs28813447	0.91[ASN][1000 genomes]
rs2932176	0.93[ASN][1000 genomes]
rs2932177	0.87[ASN][1000 genomes]
rs2996691	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2996693	0.87[ASN][1000 genomes]
rs2996694	0.86[ASN][1000 genomes]
rs3012079	0.96[ASN][1000 genomes]
rs3012080	0.94[ASN][1000 genomes]
rs4284216	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4515744	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6680564	0.96[ASN][1000 genomes]
rs6694893	0.96[ASN][1000 genomes]
rs7355057	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv526221	chr1:79197624-79487080	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv817535	chr1:79203834-79473089	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv999624	chr1:79230028-79448222	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv535013	chr1:79230028-79448222	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv546619	chr1:79233493-79614989	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1000656	chr1:79303750-79337233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1003295	chr1:79303750-79344930	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79307200-79310200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:79307200-79310200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:79307400-79317200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:79308600-79310000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:79308800-79310000	Enhancers	NHDF-Ad	bronchial
6	chr1:79309800-79310400	Enhancers	Osteobl	bone

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