Variant report

Variant	rs4845052
Chromosome Location	chr1:210727595-210727596
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	chr1:210726377..210729090-chr1:210731794..210733440,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10863842	0.87[JPT][hapmap];0.84[AMR][1000 genomes]
rs11119535	0.81[AMR][1000 genomes]
rs11119536	0.86[JPT][hapmap];0.84[AMR][1000 genomes]
rs11119537	0.86[JPT][hapmap]
rs11119539	0.81[ASN][1000 genomes]
rs11119541	0.94[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs12029929	0.84[AMR][1000 genomes]
rs12034950	0.90[CHB][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12040304	0.95[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs12072976	0.85[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs12075603	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12079415	0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12403873	0.86[JPT][hapmap];0.82[AMR][1000 genomes]
rs17016393	0.89[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17016397	0.90[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs17016400	0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2069151	0.84[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2069155	0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4845044	0.86[JPT][hapmap]
rs4845045	0.86[JPT][hapmap]
rs4845046	0.83[AMR][1000 genomes]
rs4845047	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4845048	0.89[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4845049	0.89[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4845050	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845051	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845053	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv549106	chr1:210698719-210736508	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1011702	chr1:210706323-210739030	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1003105	chr1:210717288-210739030	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1014480	chr1:210717288-210743026	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	1 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	chr1:210680600-210731000	Weak transcription	HSMM	muscle
2	chr1:210715600-210730800	Weak transcription	HSMMtube	muscle
3	chr1:210722000-210731800	Weak transcription	Right Ventricle	heart
4	chr1:210724600-210729800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:210725600-210729600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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