Variant report

Variant	rs6721145
Chromosome Location	chr2:56183542-56183543
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	chr2:56174984..56177810-chr2:56181564..56184235,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10185077	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10192259	0.81[ASN][1000 genomes]
rs11125611	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12472832	0.81[ASN][1000 genomes]
rs1432560	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1432561	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1432563	0.80[ASN][1000 genomes]
rs1465685	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1583266	0.80[ASN][1000 genomes]
rs1583267	0.81[ASN][1000 genomes]
rs1897478	0.81[ASN][1000 genomes]
rs2278366	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2868984	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs34552760	0.82[AFR][1000 genomes]
rs3972318	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4453721	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4589800	0.84[ASN][1000 genomes]
rs4635565	0.85[ASN][1000 genomes]
rs4672080	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4672081	0.80[ASN][1000 genomes]
rs4672082	0.80[ASN][1000 genomes]
rs55805406	0.83[ASN][1000 genomes]
rs57062472	0.81[ASN][1000 genomes]
rs6545531	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6704991	0.81[AMR][1000 genomes]
rs6724998	0.81[ASN][1000 genomes]
rs6733881	0.81[ASN][1000 genomes]
rs6733889	0.80[ASN][1000 genomes]
rs724539	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs724540	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7422809	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7561395	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7561417	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7564964	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv874161	chr2:56154316-56203798	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56171000-56185000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:56178000-56185200	Weak transcription	Right Atrium	heart
3	chr2:56180000-56188800	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:56180200-56183800	Weak transcription	Ovary	ovary
5	chr2:56182400-56185200	Weak transcription	NH-A	brain
6	chr2:56182600-56184000	Weak transcription	Hela-S3	cervix
7	chr2:56182600-56185000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:56182600-56185200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:56182600-56185400	Weak transcription	Fetal Lung	lung
10	chr2:56182800-56183800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:56182800-56183800	Weak transcription	Osteobl	bone
12	chr2:56182800-56184000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:56182800-56184200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:56182800-56184200	Weak transcription	Adipose Nuclei	Adipose

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