Variant report

Variant	rs13396221
Chromosome Location	chr2:134238816-134238817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:134022300..134024588-chr2:134238653..134241176,2	MCF-7	breast:
2	chr2:134234673..134237386-chr2:134238452..134240257,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226953	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10167049	0.84[AFR][1000 genomes]
rs10172908	1.00[EUR][1000 genomes]
rs10176630	1.00[EUR][1000 genomes]
rs10179509	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10180776	1.00[EUR][1000 genomes]
rs10182352	1.00[EUR][1000 genomes]
rs10204302	1.00[EUR][1000 genomes]
rs11904353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13383175	1.00[EUR][1000 genomes]
rs13383603	1.00[EUR][1000 genomes]
rs13402934	1.00[EUR][1000 genomes]
rs13406195	1.00[EUR][1000 genomes]
rs13406470	1.00[EUR][1000 genomes]
rs13410388	1.00[EUR][1000 genomes]
rs13419194	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13432659	1.00[EUR][1000 genomes]
rs1897430	1.00[EUR][1000 genomes]
rs1897431	1.00[EUR][1000 genomes]
rs28420171	1.00[EUR][1000 genomes]
rs28634361	1.00[EUR][1000 genomes]
rs6718180	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6727895	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134231400-134240000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:134235000-134244400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:134235000-134247400	Weak transcription	Left Ventricle	heart
4	chr2:134235200-134240600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:134237800-134239200	Enhancers	NHEK	skin
6	chr2:134238000-134239200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:134238000-134239200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:134238000-134239600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:134238200-134239000	Enhancers	HMEC	breast
10	chr2:134238400-134239000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:134238600-134244400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:134238600-134245400	Weak transcription	Liver	Liver

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