Variant report

Variant	rs57341317
Chromosome Location	chr13:92297886-92297887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:92293314..92295446-chr13:92296832..92298493,2	K562	blood:
2	chr13:91998514..92002509-chr13:92292790..92300343,7	K562	blood:
3	chr13:92291806..92294892-chr13:92297523..92300021,4	K562	blood:
4	chr13:92272945..92275845-chr13:92297688..92299571,2	K562	blood:
5	chr13:92297130..92298943-chr13:92307852..92310452,2	K562	blood:
6	chr13:92296687..92299526-chr13:92415724..92417645,2	K562	blood:
7	chr13:92070589..92072533-chr13:92296462..92299293,2	K562	blood:
8	chr13:92297056..92300246-chr13:92301325..92305110,3	K562	blood:
9	chr13:92262226..92264214-chr13:92297323..92300140,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215417	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10219980	0.95[ASN][1000 genomes]
rs10492611	0.98[ASN][1000 genomes]
rs11616549	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11619422	0.98[ASN][1000 genomes]
rs11841822	0.98[ASN][1000 genomes]
rs11843202	0.98[ASN][1000 genomes]
rs11843298	0.98[ASN][1000 genomes]
rs1326742	0.98[ASN][1000 genomes]
rs1348663	0.98[ASN][1000 genomes]
rs1365874	0.98[ASN][1000 genomes]
rs1365875	0.98[ASN][1000 genomes]
rs1373863	0.93[ASN][1000 genomes]
rs1409600	0.98[ASN][1000 genomes]
rs1409602	0.98[ASN][1000 genomes]
rs1409603	0.98[ASN][1000 genomes]
rs1412311	0.98[ASN][1000 genomes]
rs1412312	0.98[ASN][1000 genomes]
rs1584154	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs16946366	0.99[ASN][1000 genomes]
rs16946369	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16946409	0.98[ASN][1000 genomes]
rs16946412	0.98[ASN][1000 genomes]
rs16946426	0.98[ASN][1000 genomes]
rs16946431	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16946433	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16946459	0.98[ASN][1000 genomes]
rs1822915	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1822916	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1831567	0.98[ASN][1000 genomes]
rs1831568	0.98[ASN][1000 genomes]
rs1926658	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1926659	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2148530	0.98[ASN][1000 genomes]
rs2209653	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2882822	0.98[ASN][1000 genomes]
rs3852115	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3852116	0.98[ASN][1000 genomes]
rs3864178	0.98[ASN][1000 genomes]
rs3906488	0.98[ASN][1000 genomes]
rs4773643	0.96[ASN][1000 genomes]
rs55924226	0.96[ASN][1000 genomes]
rs58166883	0.98[ASN][1000 genomes]
rs60635585	0.98[ASN][1000 genomes]
rs60790837	0.98[ASN][1000 genomes]
rs6492560	0.98[ASN][1000 genomes]
rs72643211	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72643220	0.98[ASN][1000 genomes]
rs72643221	0.89[ASN][1000 genomes]
rs72643223	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72643226	0.98[ASN][1000 genomes]
rs72643228	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7321165	0.98[ASN][1000 genomes]
rs7322883	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7324760	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7337822	0.97[ASN][1000 genomes]
rs914557	0.97[ASN][1000 genomes]
rs9583950	0.98[ASN][1000 genomes]
rs9583952	0.98[ASN][1000 genomes]
rs9589322	0.96[ASN][1000 genomes]
rs9589323	0.98[ASN][1000 genomes]
rs9589324	0.98[ASN][1000 genomes]
rs9589326	0.98[ASN][1000 genomes]
rs9589327	0.98[ASN][1000 genomes]
rs9652104	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042947	chr13:91571040-92416897	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
2	nsv541871	chr13:91571040-92416897	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
3	nsv1049382	chr13:92024240-92521180	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv541873	chr13:92024240-92521180	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv562714	chr13:92056911-92304974	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv562715	chr13:92061878-92299609	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1041168	chr13:92062057-92301861	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv949582	chr13:92062331-92301861	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1040707	chr13:92072034-92302281	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1040709	chr13:92173603-92318362	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv2753383	chr13:92226599-92462699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv900882	chr13:92228446-92304974	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv529268	chr13:92267310-92531263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr13:92296600-92298200	Enhancers	Hela-S3	cervix
2	chr13:92297200-92298200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr13:92297800-92298200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr13:92297800-92299400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:92297800-92299600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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