Variant report

Variant	rs2936048
Chromosome Location	chr1:222774274-222774275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222769036..222771053-chr1:222772761..222776622,3	MCF-7	breast:
2	chr1:222769042..222774678-chr1:222788731..222793044,4	MCF-7	breast:
3	chr1:222768595..222770537-chr1:222773766..222776283,2	K562	blood:
4	chr1:222762305..222766716-chr1:222770153..222775220,6	MCF-7	breast:

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11485178	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11485180	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11487813	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1319392	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1603742	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17163214	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1909192	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1995152	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2133185	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2173401	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2378583	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2936027	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2936031	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2936034	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2936035	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2936037	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2936038	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2936040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3002151	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3008641	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3008644	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3008650	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4400619	0.96[AMR][1000 genomes];0.91[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222773000-222774800	Enhancers	Hela-S3	cervix
2	chr1:222773600-222774800	Enhancers	HUVEC	blood vessel
3	chr1:222773800-222780400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:222774200-222774800	Weak transcription	A549	lung
5	chr1:222774200-222776000	Enhancers	Stomach Mucosa	stomach

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