Variant report

Variant	rs1814935
Chromosome Location	chr13:38785723-38785724
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10507468	0.97[ASN][1000 genomes]
rs11617000	0.98[ASN][1000 genomes]
rs11842885	0.97[ASN][1000 genomes]
rs12584071	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12584611	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12585427	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12866625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12876396	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1320243	0.98[ASN][1000 genomes]
rs1330974	0.90[ASN][1000 genomes]
rs1330975	0.89[ASN][1000 genomes]
rs1501854	0.86[EUR][1000 genomes]
rs2202120	0.96[ASN][1000 genomes]
rs2202122	0.96[ASN][1000 genomes]
rs2323711	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2323713	0.91[ASN][1000 genomes]
rs2460311	0.97[ASN][1000 genomes]
rs2460316	0.98[ASN][1000 genomes]
rs2496564	0.98[ASN][1000 genomes]
rs28524476	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34028981	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35068397	0.98[ASN][1000 genomes]
rs35718243	0.90[ASN][1000 genomes]
rs4548734	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58194982	0.98[ASN][1000 genomes]
rs61949069	0.90[ASN][1000 genomes]
rs640444	0.91[ASN][1000 genomes]
rs6563591	0.91[ASN][1000 genomes]
rs6563592	0.91[ASN][1000 genomes]
rs6563593	0.91[ASN][1000 genomes]
rs666294	0.91[ASN][1000 genomes]
rs71198475	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71439757	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7320458	0.91[ASN][1000 genomes]
rs7336867	0.91[ASN][1000 genomes]
rs7338934	0.91[ASN][1000 genomes]
rs7339233	0.88[ASN][1000 genomes]
rs9315557	0.98[ASN][1000 genomes]
rs9315562	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315565	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9548230	0.81[JPT][hapmap]
rs9548237	0.98[ASN][1000 genomes]
rs9548247	0.91[ASN][1000 genomes]
rs9548250	0.91[ASN][1000 genomes]
rs9548251	0.91[ASN][1000 genomes]
rs9548254	0.92[ASN][1000 genomes]
rs9566315	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9566316	0.98[ASN][1000 genomes]
rs9566317	0.98[ASN][1000 genomes]
rs9566319	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576472	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9576473	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9576474	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9576475	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9576476	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576481	0.97[ASN][1000 genomes]
rs9576482	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576486	0.91[ASN][1000 genomes]
rs9576488	0.91[ASN][1000 genomes]
rs9576489	0.90[ASN][1000 genomes]
rs9576490	0.90[ASN][1000 genomes]
rs9576491	0.90[ASN][1000 genomes]
rs9576492	0.90[ASN][1000 genomes]
rs9576493	0.90[ASN][1000 genomes]
rs9576494	0.90[ASN][1000 genomes]
rs9594259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9594260	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9603333	0.98[ASN][1000 genomes]
rs9603334	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38777600-38787200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:38784000-38786000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:38784400-38785800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr13:38784600-38785800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr13:38784800-38785800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr13:38785000-38785800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr13:38785600-38786200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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