Variant report

Variant	rs701942
Chromosome Location	chr1:210429392-210429393
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210425064..210427763-chr1:210429137..210431725,3	MCF-7	breast:
2	chr1:210427524..210430989-chr1:210501489..210504442,3	MCF-7	breast:
3	chr1:210428073..210429613-chr1:210467774..210469897,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054392	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10489391	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10863818	0.90[AMR][1000 genomes]
rs11119455	0.90[AMR][1000 genomes]
rs11119456	0.82[AMR][1000 genomes]
rs12030512	0.83[AFR][1000 genomes]
rs12030856	0.83[AFR][1000 genomes]
rs12034871	0.83[AFR][1000 genomes]
rs12040684	0.83[AFR][1000 genomes]
rs12067807	0.81[ASN][1000 genomes]
rs12069380	0.84[AMR][1000 genomes]
rs12069491	0.82[AMR][1000 genomes]
rs12070628	0.81[AMR][1000 genomes]
rs12083219	0.81[ASN][1000 genomes]
rs1774107	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2273047	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4844987	0.90[AMR][1000 genomes]
rs4844988	0.84[AMR][1000 genomes]
rs4844989	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4844996	0.83[AFR][1000 genomes]
rs583148	0.83[AMR][1000 genomes]
rs587203	0.84[AMR][1000 genomes]
rs588197	0.83[AMR][1000 genomes]
rs590380	0.83[AMR][1000 genomes]
rs60154123	0.83[AFR][1000 genomes]
rs608791	0.83[AMR][1000 genomes]
rs614167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628423	0.84[AMR][1000 genomes]
rs628869	0.84[AMR][1000 genomes]
rs628908	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634601	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs645311	0.84[AMR][1000 genomes]
rs645890	0.83[AMR][1000 genomes]
rs650728	0.91[CEU][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs652241	0.83[AMR][1000 genomes]
rs652256	0.83[AMR][1000 genomes]
rs661190	0.81[AMR][1000 genomes]
rs662424	0.82[AMR][1000 genomes]
rs664072	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs664097	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs672819	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs689248	0.83[AMR][1000 genomes]
rs701941	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs701943	0.91[CEU][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs701944	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7416285	0.81[ASN][1000 genomes]
rs815358	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs845452	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs845455	0.80[CEU][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210425400-210433000	Weak transcription	Right Atrium	heart
2	chr1:210425600-210435400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:210425800-210430600	Weak transcription	HMEC	breast
4	chr1:210425800-210435400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:210426200-210435200	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:210426400-210433000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:210426600-210430600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:210426800-210430600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:210426800-210431200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:210427200-210430600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:210427600-210433000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:210427800-210433000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:210428200-210439600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:210429000-210429800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:210429200-210429400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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