Variant report

Variant	rs62283344
Chromosome Location	chr3:177403607-177403608
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	chr3:177394100..177396470-chr3:177401441..177403790,2	K562	blood:
2	chr3:177403269..177405370-chr3:177412619..177415162,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228221	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10513751	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11707843	0.90[EUR][1000 genomes]
rs12486651	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12487647	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493064	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12631987	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12633573	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1392197	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1392198	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16828483	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16828521	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16848236	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34585605	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56673356	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57793263	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62283317	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62283321	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62283322	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62283323	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62283343	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62283346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62283348	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62283349	0.92[EUR][1000 genomes]
rs62283351	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62283352	0.90[EUR][1000 genomes]
rs62283356	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6766877	0.89[EUR][1000 genomes]
rs6768558	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6798789	0.90[EUR][1000 genomes]
rs6800850	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6802610	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73174869	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7646007	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7648462	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7648551	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7651286	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9681874	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752972	chr3:176924298-177425298	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv931055	chr3:177229521-177889872	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv998537	chr3:177403421-177425648	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:177392000-177405400	Weak transcription	Brain Substantia Nigra	brain
2	chr3:177392200-177404400	Weak transcription	Ovary	ovary
3	chr3:177392400-177418800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:177394800-177404800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:177395000-177406000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:177395000-177411600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:177398800-177405200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:177398800-177421600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:177400400-177406200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:177401800-177404400	Weak transcription	Brain Inferior Temporal Lobe	brain

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