Variant report

Variant	rs681711
Chromosome Location	chr15:59050051-59050052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:59049838-59050889	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:59049338..59052129-chr15:59052697..59054874,3	K562	blood:
2	chr15:59048564..59050956-chr15:59058721..59061333,2	K562	blood:
3	chr15:58519596..58520483-chr15:59049894..59051015,4	MCF-7	breast:
4	chr15:59040771..59044388-chr15:59046627..59050183,4	K562	blood:

Variant related genes	Relation type
ENSG00000259173	TF binding region
ENSG00000137845	Chromatin interaction
ENSG00000200318	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11071396	0.91[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11629654	0.80[EUR][1000 genomes]
rs11852241	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11853043	0.91[YRI][hapmap]
rs12437552	0.83[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes]
rs12438114	0.85[CHB][hapmap]
rs1427280	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs17236243	1.00[CEU][hapmap];0.96[CHB][hapmap];0.90[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17301982	0.80[CEU][hapmap]
rs2114573	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs2414606	0.84[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes]
rs2414607	0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28391588	0.83[AMR][1000 genomes]
rs28537903	0.82[EUR][1000 genomes]
rs28617688	0.85[EUR][1000 genomes]
rs34546804	0.87[EUR][1000 genomes]
rs3933541	0.90[AMR][1000 genomes]
rs394845	0.91[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs447299	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4774309	0.92[CHB][hapmap]
rs4774311	0.92[CEU][hapmap];0.80[CHB][hapmap];0.89[EUR][1000 genomes]
rs655348	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs694335	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7164053	0.90[EUR][1000 genomes]
rs7164844	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs7168275	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7170538	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs7171198	0.92[CEU][hapmap];0.80[CHB][hapmap];0.91[EUR][1000 genomes]
rs7173286	0.85[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7178970	0.87[EUR][1000 genomes]
rs7179724	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes]
rs7182060	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7183504	0.84[AMR][1000 genomes]
rs8023706	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8027998	0.84[AMR][1000 genomes]
rs8033478	0.90[EUR][1000 genomes]
rs8036097	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs9646204	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9744045	0.90[EUR][1000 genomes]
rs9788674	0.88[CEU][hapmap];0.82[EUR][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	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59042600-59062600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:59043000-59062400	Weak transcription	Psoas Muscle	Psoas
3	chr15:59046400-59050400	Weak transcription	Liver	Liver
4	chr15:59047600-59052200	Weak transcription	Fetal Thymus	thymus
5	chr15:59048600-59050200	Weak transcription	Brain Hippocampus Middle	brain
6	chr15:59049400-59050800	Weak transcription	A549	lung

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