Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222955751..222958236-chr1:223306317..223309045,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187554	Chromatin interaction

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11490203	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11490204	0.83[EUR][1000 genomes]
rs11490205	0.83[EUR][1000 genomes]
rs12749296	0.84[ASN][1000 genomes]
rs17474745	0.83[EUR][1000 genomes]
rs17533651	0.83[EUR][1000 genomes]
rs17533810	0.83[EUR][1000 genomes]
rs17533873	0.83[EUR][1000 genomes]
rs2068814	0.82[ASN][1000 genomes]
rs2378607	0.82[ASN][1000 genomes]
rs28654270	0.86[ASN][1000 genomes]
rs28765200	0.86[ASN][1000 genomes]
rs2889937	0.83[EUR][1000 genomes]
rs2889940	0.82[EUR][1000 genomes]
rs34141370	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34643154	0.81[EUR][1000 genomes]
rs34807177	0.83[EUR][1000 genomes]
rs34885880	0.84[ASN][1000 genomes]
rs35292789	0.82[EUR][1000 genomes]
rs35651802	0.83[EUR][1000 genomes]
rs3922772	0.82[EUR][1000 genomes]
rs4011743	0.83[EUR][1000 genomes]
rs4240935	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4303078	0.82[EUR][1000 genomes]
rs4472762	0.83[EUR][1000 genomes]
rs61825253	0.84[ASN][1000 genomes]
rs61825254	0.86[ASN][1000 genomes]
rs61825258	0.81[ASN][1000 genomes]
rs61825259	0.86[ASN][1000 genomes]
rs6700083	0.83[ASN][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv3369664	chr1:222935606-222958164	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222947200-222959200	Weak transcription	Fetal Brain Male	brain
2	chr1:222948200-222961600	Weak transcription	Primary B cells from cord blood	blood
3	chr1:222951400-222959400	Weak transcription	Stomach Mucosa	stomach
4	chr1:222951600-222959600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:222951800-222956400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:222953400-222968000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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