Variant report

Variant	rs347119
Chromosome Location	chr15:59053199-59053200
allele	C/T
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	RAD21	chr15:59053126-59053564	MCF-7	breast:	n/a	n/a
2	MAX	chr15:59052611-59053199	NB4	blood:	n/a	chr15:59053028-59053038
3	RAD21	chr15:59053152-59053518	HepG2	liver:	n/a	n/a
4	RAD21	chr15:59053029-59053621	HCT-116	colon:	n/a	n/a
5	CTCF	chr15:59053138-59053627	HCT-116	colon:	n/a	n/a
6	RAD21	chr15:59053199-59053431	SK-N-SH_RA	brain:	n/a	n/a
7	RAD21	chr15:59053145-59053594	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:59042046..59047020-chr15:59050998..59056418,7	K562	blood:
2	chr15:59051351..59055079-chr15:59061641..59063693,4	K562	blood:
3	chr15:59052627..59055079-chr15:59061662..59063562,2	K562	blood:

Variant related genes	Relation type
ENSG00000200318	TF binding region
ENSG00000259173	TF binding region
ENSG00000245975	Chromatin interaction
ENSG00000128923	Chromatin interaction
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11631244	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11631334	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11632492	0.91[AMR][1000 genomes]
rs11638416	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs11639208	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16940571	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs16940810	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17190720	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2555787	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2657126	1.00[AMR][1000 genomes]
rs347118	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347121	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs347122	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs384322	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs387005	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs390390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs415403	1.00[AMR][1000 genomes]
rs424346	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs437549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs602921	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs625510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6494025	1.00[CEU][hapmap]
rs664783	0.94[EUR][1000 genomes]
rs73426525	0.82[AMR][1000 genomes]
rs73426541	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs793417	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];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	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:3 , 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	chr15:59052200-59053200	Enhancers	Fetal Thymus	thymus

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