Variant report

Variant	rs73609987
Chromosome Location	chr13:92305911-92305912
allele	A/G
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:
6	chr13:92298019..92302029-chr13:92302074..92306168,5	K562	blood:

Variant related genes	Relation type
ENSG00000215417	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10492612	1.00[AMR][1000 genomes]
rs10492613	1.00[AMR][1000 genomes]
rs16946339	1.00[AMR][1000 genomes]
rs16946341	0.85[AMR][1000 genomes]
rs16946352	1.00[AMR][1000 genomes]
rs16946357	1.00[AMR][1000 genomes]
rs16946360	1.00[AMR][1000 genomes]
rs16946362	1.00[AMR][1000 genomes]
rs16946371	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946374	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946377	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946381	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946386	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946389	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946394	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946396	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946397	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946400	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946404	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946405	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16946406	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16946407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946415	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17388158	1.00[AMR][1000 genomes]
rs55965175	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57140832	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57792448	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57927413	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57977827	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58927659	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59048158	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59240177	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59356035	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59594682	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60874154	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60875456	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61249711	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73607976	1.00[AMR][1000 genomes]
rs73607979	1.00[AMR][1000 genomes]
rs73609965	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609967	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609971	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609975	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609976	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609977	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609979	0.95[AFR][1000 genomes]
rs73609983	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609984	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609985	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609986	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612008	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74104924	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs74104930	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9589321	1.00[AMR][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	chr13:92305600-92306000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr13:92305600-92307200	Enhancers	Hela-S3	cervix

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