Variant report

Variant	rs13394934
Chromosome Location	chr2:133429918-133429919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:133425043..133426903-chr2:133429908..133431486,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10167716	1.00[EUR][1000 genomes]
rs10171205	1.00[EUR][1000 genomes]
rs10198820	0.89[AMR][1000 genomes]
rs13385904	1.00[EUR][1000 genomes]
rs13386467	1.00[EUR][1000 genomes]
rs13386584	1.00[EUR][1000 genomes]
rs1430628	1.00[EUR][1000 genomes]
rs16837976	1.00[EUR][1000 genomes]
rs16837995	1.00[EUR][1000 genomes]
rs16839523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56069383	1.00[EUR][1000 genomes]
rs57213001	1.00[EUR][1000 genomes]
rs57536045	1.00[EUR][1000 genomes]
rs59250098	1.00[EUR][1000 genomes]
rs59316981	1.00[EUR][1000 genomes]
rs60583538	1.00[EUR][1000 genomes]
rs61399327	1.00[EUR][1000 genomes]
rs72985834	1.00[EUR][1000 genomes]
rs7560280	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7587261	1.00[EUR][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	nsv1011421	chr2:132895241-133682185	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv875137	chr2:133167263-133714142	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	nsv875138	chr2:133410921-133761794	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh 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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133428800-133430000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:133428800-133431600	Weak transcription	Psoas Muscle	Psoas
3	chr2:133429200-133430000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
4	chr2:133429200-133430000	Weak transcription	Lung	lung
5	chr2:133429200-133430000	Enhancers	Hela-S3	cervix
6	chr2:133429200-133439400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:133429400-133430200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:133429400-133430200	Enhancers	HUVEC	blood vessel
9	chr2:133429400-133430800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:133429600-133430200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr2:133429600-133430200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr2:133429600-133430400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:133429600-133432000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:133429600-133434400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:133429600-133434800	Weak transcription	Osteobl	bone
16	chr2:133429600-133435000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:133429800-133430600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:133429800-133434600	Weak transcription	NH-A	brain

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