Variant report

Variant	rs2936044
Chromosome Location	chr1:222772522-222772523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222769042..222774678-chr1:222788731..222793044,4	MCF-7	breast:
2	chr1:222736167..222737997-chr1:222772404..222774025,2	K562	blood:
3	chr1:222767496..222770287-chr1:222772054..222773560,2	K562	blood:
4	chr1:222769721..222773019-chr1:222787711..222792892,5	K562	blood:
5	chr1:222735151..222737667-chr1:222771171..222774025,2	K562	blood:
6	chr1:222762305..222766716-chr1:222770153..222775220,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225265	Chromatin interaction
ENSG00000143498	Chromatin interaction
ENSG00000154305	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1024065	0.87[EUR][1000 genomes]
rs10495194	0.85[EUR][1000 genomes]
rs17463740	0.84[EUR][1000 genomes]
rs17464857	0.85[EUR][1000 genomes]
rs17511318	0.89[EUR][1000 genomes]
rs1909194	0.89[EUR][1000 genomes]
rs1982983	0.85[EUR][1000 genomes]
rs2006790	0.87[EUR][1000 genomes]
rs2936030	0.85[EUR][1000 genomes]
rs2936039	0.89[EUR][1000 genomes]
rs2936041	0.89[EUR][1000 genomes]
rs2936045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936046	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3002130	0.89[EUR][1000 genomes]
rs3008647	0.85[EUR][1000 genomes]
rs3008653	0.89[EUR][1000 genomes]
rs3008654	0.89[EUR][1000 genomes]
rs35750438	0.84[EUR][1000 genomes]
rs4328077	0.83[EUR][1000 genomes]
rs73122816	0.88[EUR][1000 genomes]
rs73122823	0.84[EUR][1000 genomes]
rs73122834	0.85[EUR][1000 genomes]
rs73122837	0.85[EUR][1000 genomes]
rs73122849	0.85[EUR][1000 genomes]
rs73122850	0.85[EUR][1000 genomes]
rs73122857	0.84[EUR][1000 genomes]
rs74148133	0.85[EUR][1000 genomes]
rs74148142	0.89[EUR][1000 genomes]
rs9441828	0.81[EUR][1000 genomes]
rs9441911	0.83[EUR][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	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222764000-222773600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:222769200-222773600	Enhancers	Stomach Mucosa	stomach

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