Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182681410..182683561-chr2:182690955..182693010,2	MCF-7	breast:
2	chr2:182658638..182660215-chr2:182682406..182684395,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10497586	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11891680	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11898530	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902326	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12612058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12618902	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12620901	0.99[ASN][1000 genomes]
rs12622894	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13387144	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1427333	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1528028	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16867496	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs16867503	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16867506	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1991374	0.88[ASN][1000 genomes]
rs57281910	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57971040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59159077	0.83[ASN][1000 genomes]
rs59956987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60200067	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61246630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720578	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7567399	0.98[ASN][1000 genomes]
rs7567560	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7581484	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7584725	0.94[EUR][1000 genomes];0.98[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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active 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 miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182676800-182686400	Weak transcription	Pancreas	Pancrea
2	chr2:182677200-182683600	Weak transcription	Fetal Kidney	kidney
3	chr2:182677600-182683600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:182679400-182683400	Weak transcription	HUVEC	blood vessel
5	chr2:182680200-182683600	Weak transcription	Fetal Lung	lung
6	chr2:182680400-182683800	Weak transcription	Placenta	Placenta
7	chr2:182680400-182683800	Weak transcription	Fetal Thymus	thymus
8	chr2:182681200-182683200	Enhancers	Hela-S3	cervix
9	chr2:182681200-182683800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:182682200-182685000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:182682200-182695400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:182682400-182684200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:182682400-182684200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:182682600-182683000	Enhancers	Colon Smooth Muscle	Colon
15	chr2:182682600-182683200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:182682600-182683600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:182682600-182684200	Enhancers	Fetal Stomach	stomach

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