Variant report

Variant	rs2708972
Chromosome Location	chr2:113665741-113665742
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	chr2:113665279..113667545-chr2:113668191..113672531,3	K562	blood:
2	chr2:113665026..113667362-chr2:113668191..113671168,3	K562	blood:

Variant related genes	Relation type
ENSG00000125571	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs13023868	0.97[ASN][1000 genomes]
rs13023984	0.97[ASN][1000 genomes]
rs17042569	1.00[AMR][1000 genomes]
rs2464908	0.87[ASN][1000 genomes]
rs2464909	0.87[ASN][1000 genomes]
rs2464910	0.87[ASN][1000 genomes]
rs2466449	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708918	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2708922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2708923	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2708925	0.87[ASN][1000 genomes]
rs2708926	0.87[ASN][1000 genomes]
rs2708934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2708935	0.87[ASN][1000 genomes]
rs2708936	0.87[ASN][1000 genomes]
rs2708973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723153	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723155	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2723161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723176	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2723186	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2723191	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2723194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723195	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2723196	0.84[ASN][1000 genomes]
rs2723198	0.87[ASN][1000 genomes]
rs2723199	0.87[ASN][1000 genomes]
rs2723200	0.87[ASN][1000 genomes]
rs2723201	0.87[ASN][1000 genomes]
rs2723202	0.87[ASN][1000 genomes]
rs2723203	0.87[ASN][1000 genomes]
rs28947185	1.00[ASN][1000 genomes]
rs3917349	1.00[EUR][1000 genomes]
rs3917367	1.00[AMR][1000 genomes]
rs4392270	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4589758	0.97[ASN][1000 genomes]
rs4611652	0.97[ASN][1000 genomes]
rs4848305	1.00[EUR][1000 genomes]
rs4849133	0.97[ASN][1000 genomes]
rs57092685	0.98[ASN][1000 genomes]
rs6725910	0.87[ASN][1000 genomes]
rs6736642	0.97[ASN][1000 genomes]
rs6751093	0.87[ASN][1000 genomes]
rs7577574	0.97[ASN][1000 genomes]
rs7602680	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv961338	chr2:113657963-113691422	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:113664600-113668400	Weak transcription	NHEK	skin
2	chr2:113664800-113668200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:113664800-113678000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:113665000-113668400	Weak transcription	HMEC	breast
5	chr2:113665600-113666200	Enhancers	Fetal Heart	heart

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