Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:113450142..113452191-chr2:113453793..113456655,2	K562	blood:
2	chr2:113455158..113456685-chr2:113462194..113464257,2	MCF-7	breast:
3	chr2:113448245..113450207-chr2:113454665..113457286,2	MCF-7	breast:
4	chr2:113456271..113458679-chr2:113474472..113476820,3	K562	blood:
5	chr2:113455109..113458679-chr2:113473651..113476820,4	K562	blood:
6	chr2:113446769..113452405-chr2:113453017..113461667,12	K562	blood:
7	chr2:113414879..113416797-chr2:113454427..113457223,2	K562	blood:

Variant related genes	Relation type
ENSG00000144136	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10173049	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1018317	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10201756	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10211073	0.93[ASN][1000 genomes]
rs11692751	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2222131	0.93[ASN][1000 genomes]
rs4848291	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4848292	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4848293	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4848294	0.91[ASN][1000 genomes]
rs4848295	0.92[ASN][1000 genomes]
rs4848296	0.91[ASN][1000 genomes]
rs4849106	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4849107	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6542077	0.89[ASN][1000 genomes]
rs6542078	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6542079	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6542080	0.91[ASN][1000 genomes]
rs6542081	0.91[ASN][1000 genomes]
rs6542082	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73955258	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7567215	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10174076	SLC20A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113449200-113456800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:113451800-113462800	Weak transcription	Dnd41	blood
3	chr2:113454600-113458200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:113454800-113460600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:113455000-113458000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:113455000-113458200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:113455400-113457600	Enhancers	GM12878-XiMat	blood
8	chr2:113456000-113457800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr2:113456000-113460000	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:113456200-113456600	Weak transcription	K562	blood
11	chr2:113456200-113459400	Enhancers	Primary B cells from cord blood	blood
12	chr2:113456400-113457400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:113456400-113460200	Enhancers	Primary B cells from peripheral blood	blood

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