Variant report

Variant	rs1348124
Chromosome Location	chr2:182484400-182484401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182479548..182482856-chr2:182483697..182487232,3	K562	blood:
2	chr2:182483155..182484800-chr2:182488463..182489997,2	MCF-7	breast:
3	chr2:182478647..182481225-chr2:182482186..182484870,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10153755	1.00[AMR][1000 genomes]
rs10180793	1.00[AMR][1000 genomes]
rs10206693	1.00[AMR][1000 genomes]
rs1026401	1.00[AMR][1000 genomes]
rs1037623	1.00[AMR][1000 genomes]
rs13415157	1.00[AMR][1000 genomes]
rs13423639	1.00[AMR][1000 genomes]
rs13424840	1.00[AMR][1000 genomes]
rs1375489	1.00[AMR][1000 genomes]
rs1449258	1.00[AMR][1000 genomes]
rs1466110	1.00[AMR][1000 genomes]
rs155117	1.00[AMR][1000 genomes]
rs155118	1.00[AMR][1000 genomes]
rs2198730	1.00[AMR][1000 genomes]
rs2368214	1.00[AMR][1000 genomes]
rs3863936	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3910673	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4404231	1.00[AMR][1000 genomes]
rs57055225	1.00[AMR][1000 genomes]
rs6706626	1.00[AMR][1000 genomes]
rs6730994	1.00[AMR][1000 genomes]
rs73974897	1.00[AMR][1000 genomes]
rs9653241	1.00[AMR][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	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	nsv1014910	chr2:182375267-182544114	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv536065	chr2:182375267-182544114	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv834477	chr2:182438121-182593527	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr2:182479000-182484800	Weak transcription	Small Intestine	intestine
2	chr2:182483400-182488600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr2:182483600-182484800	Enhancers	Duodenum Mucosa	Duodenum
4	chr2:182483800-182485600	Enhancers	Fetal Intestine Large	intestine
5	chr2:182484000-182485600	Enhancers	Fetal Intestine Small	intestine

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