Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210679010..210681998-chr1:210700828..210702736,2	K562	blood:
2	chr1:210547452..210548994-chr1:210700269..210703169,2	K562	blood:

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10779535	0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs10779536	0.86[ASN][1000 genomes]
rs10779537	0.86[ASN][1000 genomes]
rs10863842	0.81[CHB][hapmap];0.88[ASN][1000 genomes]
rs11119535	0.88[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[ASN][1000 genomes]
rs11119536	0.82[CHB][hapmap];0.92[CHD][hapmap];0.92[MEX][hapmap];0.88[ASN][1000 genomes]
rs11119537	0.82[CHB][hapmap];0.90[CHD][hapmap];0.86[ASN][1000 genomes]
rs12029929	0.95[ASN][1000 genomes]
rs12033957	0.87[ASN][1000 genomes]
rs12075603	0.87[ASN][1000 genomes]
rs12125970	0.81[ASN][1000 genomes]
rs12126012	0.85[ASN][1000 genomes]
rs12403873	0.81[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs12404948	0.80[ASN][1000 genomes]
rs17016393	0.87[CHD][hapmap];0.92[MEX][hapmap]
rs17016400	0.92[MEX][hapmap]
rs2069151	0.87[CHD][hapmap]
rs2069153	0.81[ASN][1000 genomes]
rs2069155	0.84[CHD][hapmap];0.92[MEX][hapmap];0.81[ASN][1000 genomes]
rs4845044	0.94[CHB][hapmap];0.87[CHD][hapmap];0.91[ASN][1000 genomes]
rs4845045	0.94[CHB][hapmap];0.87[CHD][hapmap];0.91[ASN][1000 genomes]
rs4845046	0.88[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.95[ASN][1000 genomes]
rs4845047	0.81[ASN][1000 genomes]
rs4845048	0.87[CHD][hapmap];0.92[MEX][hapmap]
rs4845049	0.87[CHD][hapmap];0.92[MEX][hapmap]
rs4845053	0.92[MEX][hapmap]

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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210674400-210719600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210680600-210731000	Weak transcription	HSMM	muscle
3	chr1:210698800-210701200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:210699000-210701200	Enhancers	Fetal Heart	heart
5	chr1:210699600-210701200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:210700400-210703800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:210700800-210702200	Weak transcription	Spleen	Spleen
8	chr1:210700800-210708800	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:210700800-210709200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:210701000-210701200	Weak transcription	HSMMtube	muscle

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