Variant report

Variant	rs9307270
Chromosome Location	chr4:78306419-78306420
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:78306302..78306941-chr4:78521930..78522730,3	MCF-7	breast:
2	chr4:78306285..78307276-chr4:78351745..78352760,5	MCF-7	breast:
3	chr4:78306279..78307489-chr4:78353325..78355121,9	MCF-7	breast:
4	chr4:78306158..78306757-chr4:78339536..78340194,2	MCF-7	breast:
5	chr4:78306259..78307081-chr4:78539517..78540020,2	K562	blood:
6	chr4:78306282..78306818-chr4:78539506..78540132,2	MCF-7	breast:
7	chr4:78306138..78307360-chr4:78339239..78340037,9	MCF-7	breast:
8	chr4:78306262..78307241-chr4:78353866..78354908,3	MCF-7	breast:

No data

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10000203	0.82[CEU][hapmap];0.86[CHB][hapmap];0.83[GIH][hapmap];0.82[MEX][hapmap]
rs10021013	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10023142	0.82[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs10025816	0.82[CEU][hapmap];0.86[CHB][hapmap];0.83[GIH][hapmap];0.82[MEX][hapmap]
rs10031995	0.82[CEU][hapmap];0.84[CHB][hapmap]
rs10034168	0.82[CEU][hapmap];0.87[CHB][hapmap];0.82[MEX][hapmap]
rs11724731	0.88[CHB][hapmap]
rs12502190	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1559121	0.82[CEU][hapmap];0.87[CHB][hapmap];0.82[MEX][hapmap]
rs17002568	0.82[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];0.87[JPT][hapmap];0.82[MEX][hapmap];0.97[MKK][hapmap];0.90[ASN][1000 genomes]
rs17002574	0.82[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs17002578	0.82[CEU][hapmap];0.81[CHB][hapmap];0.82[MEX][hapmap]
rs17002614	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17002672	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.80[CHD][hapmap];0.82[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1962027	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28408985	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28659994	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2866283	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2866286	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28697219	0.98[ASN][1000 genomes]
rs28715173	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28771770	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28821633	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28822468	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28844066	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28886989	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3886412	0.82[CEU][hapmap];0.87[CHB][hapmap]
rs4146559	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4426805	0.82[CEU][hapmap];0.86[CHB][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap]
rs4586976	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4643843	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs4859826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57255185	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57851138	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59383601	0.92[ASN][1000 genomes]
rs6819777	0.82[CEU][hapmap];0.81[CHB][hapmap];0.82[MEX][hapmap]
rs6832224	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6837541	1.00[YRI][hapmap]
rs6843981	0.82[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs6848365	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6849731	0.82[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.94[MKK][hapmap];0.92[ASN][1000 genomes]
rs6850445	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72859841	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72859843	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72859844	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7657699	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap]
rs9994349	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006017	chr4:78139780-78312974	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1010450	chr4:78182037-78317840	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1004824	chr4:78188691-78312974	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1845782	chr4:78237955-78321598	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv829974	chr4:78240718-78415642	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3442840	chr4:78277532-78309591	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv594698	chr4:78291876-78334483	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv967998	chr4:78301212-78311035	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9307270	SLC16A1	trans	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78298400-78306800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:78306200-78308200	Enhancers	Fetal Intestine Small	intestine
3	chr4:78306400-78307000	Enhancers	Fetal Muscle Leg	muscle
4	chr4:78306400-78307000	Enhancers	Fetal Thymus	thymus

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