Variant report

Variant	rs2252007
Chromosome Location	chr2:113819614-113819615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113815604..113817991-chr2:113819036..113821911,2	K562	blood:
2	chr2:113815048..113817991-chr2:113819572..113821911,4	K562	blood:

Variant related genes	Relation type
ENSG00000136695	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10187916	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10206428	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11123156	0.84[ASN][1000 genomes]
rs12475161	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12475423	0.84[ASN][1000 genomes]
rs12614012	0.84[ASN][1000 genomes]
rs1374285	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374286	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446508	0.84[ASN][1000 genomes]
rs1446521	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1530548	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530550	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530551	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530552	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530553	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530554	0.84[ASN][1000 genomes]
rs1800930	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1813048	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1867832	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1867833	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1900287	0.84[ASN][1000 genomes]
rs1900288	0.84[ASN][1000 genomes]
rs2100071	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2197578	0.84[ASN][1000 genomes]
rs2218557	0.84[ASN][1000 genomes]
rs2251872	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251876	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441375	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441376	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472188	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2515391	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2515392	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2515394	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515395	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515396	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515399	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515400	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2515401	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2515402	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2515403	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2515404	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2862775	0.84[ASN][1000 genomes]
rs2862776	0.84[ASN][1000 genomes]
rs2862853	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2862855	0.92[ASN][1000 genomes]
rs3180234	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3180235	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4848311	0.84[ASN][1000 genomes]
rs4849143	0.82[ASN][1000 genomes]
rs4849146	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4849147	0.87[ASN][1000 genomes]
rs6542110	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6724667	0.84[ASN][1000 genomes]
rs6728769	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6733859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748448	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557928	0.84[ASN][1000 genomes]
rs7567108	0.84[ASN][1000 genomes]
rs7570058	0.84[ASN][1000 genomes]
rs7570159	0.84[ASN][1000 genomes]
rs7570483	0.84[ASN][1000 genomes]
rs7599662	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs768627	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs957201	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9678578	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs990524	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv2881	chr2:113800805-113846597	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113817000-113825400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:113817400-113821600	Enhancers	Placenta	Placenta
3	chr2:113817600-113826200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:113817800-113820400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:113819600-113820000	ZNF genes & repeats	Esophagus	oesophagus

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