Variant report

Variant	rs1150896
Chromosome Location	chr1:227047256-227047257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227044580..227047261-chr1:227056474..227058125,2	MCF-7	breast:
2	chr1:227044512..227048863-chr1:227049496..227051817,3	K562	blood:
3	chr1:227045661..227048469-chr1:227054532..227056179,2	K562	blood:
4	chr1:227045661..227050211-chr1:227053920..227059739,5	K562	blood:

Variant related genes	Relation type
ENSG00000143801	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10799368	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10916054	0.94[EUR][1000 genomes]
rs1150895	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11590925	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12039247	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12126209	0.92[EUR][1000 genomes]
rs12128150	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12130758	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12131495	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12133772	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12133818	0.91[EUR][1000 genomes]
rs12563993	0.83[ASN][1000 genomes]
rs12749910	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1295642	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1295645	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1295648	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1295651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1295652	0.81[EUR][1000 genomes]
rs2855563	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34741989	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61837761	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61837762	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61837763	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6426542	0.88[EUR][1000 genomes]
rs6426543	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6426545	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6426546	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6660109	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6660716	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6663555	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6678134	0.91[EUR][1000 genomes]
rs743602	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7525811	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7553957	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9660802	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4766	chr1:227025954-227070961	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3381082	chr1:227029266-227059927	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227044200-227050400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:227045200-227057800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:227047200-227050800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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