Variant report

Variant	rs12072976
Chromosome Location	chr1:210721449-210721450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10779535	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10779536	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10779537	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10863842	0.84[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs10863843	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11119536	0.84[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs11119537	0.84[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119539	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11119541	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11583167	0.82[EUR][1000 genomes]
rs12033957	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12034950	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs12040304	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12075603	0.82[ASN][1000 genomes]
rs12079415	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12125970	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12126012	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12403873	0.84[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs12404948	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12405221	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17016393	0.94[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs17016397	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17016400	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2069151	0.89[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2069153	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2069154	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2069155	0.83[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs4845044	0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4845045	0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4845047	0.87[ASN][1000 genomes]
rs4845048	0.94[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs4845049	0.94[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs4845050	0.90[ASN][1000 genomes]
rs4845051	0.90[ASN][1000 genomes]
rs4845052	0.85[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs56727567	0.81[EUR][1000 genomes]
rs60629769	0.82[EUR][1000 genomes]
rs61828129	0.82[EUR][1000 genomes]
rs61828131	0.82[EUR][1000 genomes]
rs72749373	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv1812485	chr1:210712495-210724779	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1003105	chr1:210717288-210739030	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1014480	chr1:210717288-210743026	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3321106	chr1:210720529-210726827	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 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	chr1:210719400-210722200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:210720200-210722200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:210721000-210722200	Weak transcription	Fetal Heart	heart
6	chr1:210721400-210722000	Enhancers	Left Ventricle	heart
7	chr1:210721400-210722000	Enhancers	Right Ventricle	heart

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