Variant report

Variant	rs72643220
Chromosome Location	chr13:92306265-92306266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:92301398..92304289-chr13:92305858..92307889,2	K562	blood:
2	chr13:92271797..92272395-chr13:92305794..92306408,2	K562	blood:
3	chr13:91997965..92000326-chr13:92304439..92307338,2	K562	blood:
4	chr13:92302789..92304605-chr13:92305395..92308215,3	K562	blood:
5	chr13:92303709..92306538-chr13:92310569..92313566,2	K562	blood:

Variant related genes	Relation type
ENSG00000215417	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10219980	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10492611	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11616549	0.96[ASN][1000 genomes]
rs11619422	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11841822	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11843202	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11843298	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1326742	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1348663	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1365874	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1365875	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1373863	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1409600	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1409602	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1409603	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1412311	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1412312	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1584154	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs163929	0.89[EUR][1000 genomes]
rs163930	0.89[EUR][1000 genomes]
rs168216	0.87[EUR][1000 genomes]
rs16946366	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16946369	0.87[ASN][1000 genomes]
rs16946409	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16946412	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16946426	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16946431	0.96[ASN][1000 genomes]
rs16946433	0.96[ASN][1000 genomes]
rs16946459	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1822915	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1822916	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs182924	0.90[EUR][1000 genomes]
rs182925	0.86[EUR][1000 genomes]
rs1831567	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1831568	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs184661	0.85[EUR][1000 genomes]
rs191479	0.89[EUR][1000 genomes]
rs191480	0.84[EUR][1000 genomes]
rs1926658	0.98[ASN][1000 genomes]
rs1926659	0.96[ASN][1000 genomes]
rs2148530	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2209653	0.96[ASN][1000 genomes]
rs2882822	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs342671	0.90[EUR][1000 genomes]
rs342674	0.91[EUR][1000 genomes]
rs342675	0.90[EUR][1000 genomes]
rs342676	0.89[EUR][1000 genomes]
rs342679	0.88[EUR][1000 genomes]
rs342683	0.86[EUR][1000 genomes]
rs342684	0.89[EUR][1000 genomes]
rs342685	0.90[EUR][1000 genomes]
rs342686	0.90[EUR][1000 genomes]
rs342692	0.81[EUR][1000 genomes]
rs345435	0.90[EUR][1000 genomes]
rs3852115	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3852116	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3864178	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3906488	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs429039	0.89[EUR][1000 genomes]
rs435417	0.89[EUR][1000 genomes]
rs457538	0.89[EUR][1000 genomes]
rs461810	0.90[EUR][1000 genomes]
rs466165	0.89[EUR][1000 genomes]
rs4773643	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs523428	0.90[EUR][1000 genomes]
rs532989	0.85[EUR][1000 genomes]
rs536822	0.91[EUR][1000 genomes]
rs554857	0.90[EUR][1000 genomes]
rs55924226	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs560759	0.89[EUR][1000 genomes]
rs57341317	0.98[ASN][1000 genomes]
rs58166883	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60635585	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60790837	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6492560	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72643211	0.92[ASN][1000 genomes]
rs72643221	0.89[ASN][1000 genomes]
rs72643223	0.96[ASN][1000 genomes]
rs72643226	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72643228	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7321165	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7322883	0.96[ASN][1000 genomes]
rs7324760	0.96[ASN][1000 genomes]
rs7337822	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs914557	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9583950	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9583952	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9589322	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9589323	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9589324	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9589326	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9589327	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9652104	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92304600-92306600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr13:92304800-92306600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr13:92305000-92306400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr13:92305000-92306600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr13:92305200-92306600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:92305600-92307200	Enhancers	Hela-S3	cervix
7	chr13:92306000-92306400	Enhancers	HUES6 Cell Line	embryonic stem cell

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