Variant report

Variant	rs1456588
Chromosome Location	chr2:40987459-40987460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:40140455..40141410-chr2:40986765..40987805,5	MCF-7	breast:
2	chr2:40715138..40715797-chr2:40986899..40987522,3	MCF-7	breast:
3	chr2:40781251..40782481-chr2:40986803..40987748,5	MCF-7	breast:
4	chr2:40984676..40988273-chr2:40989890..40992404,3	K562	blood:
5	chr2:40714227..40715097-chr2:40987004..40987688,2	MCF-7	breast:
6	chr2:40440009..40440862-chr2:40987001..40987610,3	MCF-7	breast:
7	chr2:40986951..40987860-chr2:42009471..42010387,2	MCF-7	breast:
8	chr2:40987306..40987876-chr2:41636433..41637186,2	MCF-7	breast:

No data

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1003618	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10177056	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10178374	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10178666	0.92[ASN][1000 genomes]
rs10180556	0.92[AMR][1000 genomes]
rs10469903	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10469904	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11124758	0.92[AMR][1000 genomes]
rs1119785	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12475258	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12478853	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12619861	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13016243	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1379037	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1456578	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1456581	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1456582	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1456583	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1456589	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1468799	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17026357	1.00[ASW][hapmap]
rs173802	0.92[ASN][1000 genomes]
rs173803	0.92[ASN][1000 genomes]
rs173805	0.92[ASN][1000 genomes]
rs1840756	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1861308	0.92[AMR][1000 genomes]
rs1990618	0.92[ASN][1000 genomes]
rs2019379	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2019768	0.92[AMR][1000 genomes]
rs2192821	0.92[AMR][1000 genomes]
rs2216035	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2216040	0.92[ASN][1000 genomes]
rs2216042	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2373898	0.85[ASN][1000 genomes]
rs2373904	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2373936	0.88[AMR][1000 genomes]
rs3922281	0.92[ASN][1000 genomes]
rs42784	0.92[ASN][1000 genomes]
rs4539838	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4952636	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4952642	0.92[AMR][1000 genomes]
rs6544354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6709044	0.88[AMR][1000 genomes]
rs6709173	0.88[AMR][1000 genomes]
rs6713163	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6728651	0.88[AMR][1000 genomes]
rs6743662	0.88[AMR][1000 genomes]
rs6750481	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6753289	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67806170	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7369131	0.92[AMR][1000 genomes]
rs7556714	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs756376	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7564682	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7587020	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7588298	0.84[AMR][1000 genomes]
rs7591373	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7591414	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7596941	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7605586	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9309059	0.88[AMR][1000 genomes]
rs993867	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv528865	chr2:40805427-41218810	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv873927	chr2:40835285-41034225	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv470455	chr2:40835285-41059164	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv873928	chr2:40835285-41075134	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv873929	chr2:40835285-41180690	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv456441	chr2:40882402-41064824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv581514	chr2:40882402-41064824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv456452	chr2:40890416-40989061	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv581515	chr2:40890416-40989061	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:40985600-40987800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:40985600-40987800	Enhancers	Fetal Heart	heart
3	chr2:40986600-40989800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:40987000-40987800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:40987400-40989000	Weak transcription	Colon Smooth Muscle	Colon

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