Variant report

Variant	rs2348704
Chromosome Location	chr2:20576315-20576316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20569485..20571465-chr2:20575871..20577698,2	K562	blood:
2	chr2:20564625..20568805-chr2:20571129..20576493,6	MCF-7	breast:
3	chr2:20574805..20576897-chr2:20646871..20649398,2	MCF-7	breast:
4	chr2:20573304..20576530-chr2:20577907..20583085,5	MCF-7	breast:
5	chr2:20550361..20552258-chr2:20575923..20578535,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000055917	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10190763	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11096655	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11679966	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11683916	0.91[EUR][1000 genomes]
rs11686919	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2110409	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160072	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs343163	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs343164	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs343165	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4666299	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4666304	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4666305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4666382	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4666383	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6531232	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6713329	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6754782	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6756819	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7355288	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7596797	0.93[AMR][1000 genomes];0.92[EUR][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	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr2:20565200-20578400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:20570200-20578600	Weak transcription	Ovary	ovary
3	chr2:20571800-20576600	Weak transcription	Fetal Lung	lung
4	chr2:20572800-20578400	Weak transcription	Fetal Brain Male	brain
5	chr2:20575000-20578600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:20575200-20576800	Weak transcription	Aorta	Aorta
7	chr2:20575200-20578600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:20575400-20578200	Weak transcription	Placenta	Placenta
9	chr2:20575400-20581000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:20576200-20576400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:20576200-20578400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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