Variant report

Variant	rs17131142
Chromosome Location	chr1:70499912-70499913
allele	G/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	IRF1	chr1:70499792-70500482	K562	blood:	n/a	n/a
2	MAFF	chr1:70499615-70500003	HepG2	liver:	n/a	chr1:70499809-70499827
3	MAFK	chr1:70499629-70500108	IMR90	lung:	n/a	chr1:70500066-70500077 chr1:70499815-70499826 chr1:70499810-70499825 chr1:70500065-70500079 chr1:70499813-70499827 chr1:70499815-70499826 chr1:70499814-70499825 chr1:70499810-70499826
4	MAFK	chr1:70499630-70500001	HepG2	liver:	n/a	chr1:70499815-70499826 chr1:70499810-70499825 chr1:70499813-70499827 chr1:70499815-70499826 chr1:70499814-70499825 chr1:70499810-70499826
5	MAFK	chr1:70499634-70500269	Hela-S3	cervix:	n/a	chr1:70500066-70500077 chr1:70499815-70499826 chr1:70499810-70499825 chr1:70500065-70500079 chr1:70499813-70499827 chr1:70499815-70499826 chr1:70499814-70499825 chr1:70499810-70499826
6	EP300	chr1:70499786-70499927	K562	blood:	n/a	n/a
7	MAFF	chr1:70499624-70500379	K562	blood:	n/a	chr1:70499809-70499827
8	MAFK	chr1:70499628-70500510	K562	blood:	n/a	chr1:70500066-70500077 chr1:70499815-70499826 chr1:70499810-70499825 chr1:70500065-70500079 chr1:70499813-70499827 chr1:70499815-70499826 chr1:70499814-70499825 chr1:70499810-70499826
9	MAFK	chr1:70499635-70499995	HepG2	liver:	n/a	chr1:70499815-70499826 chr1:70499810-70499825 chr1:70499813-70499827 chr1:70499815-70499826 chr1:70499814-70499825 chr1:70499810-70499826
10	MAFK	chr1:70499516-70500132	GM12878	blood:	n/a	chr1:70500066-70500077 chr1:70499815-70499826 chr1:70499810-70499825 chr1:70500065-70500079 chr1:70499813-70499827 chr1:70499815-70499826 chr1:70499814-70499825 chr1:70499810-70499826
11	MAFK	chr1:70499633-70500012	H1-hESC	embryonic stem cell:	n/a	chr1:70499815-70499826 chr1:70499810-70499825 chr1:70499813-70499827 chr1:70499815-70499826 chr1:70499814-70499825 chr1:70499810-70499826

No.	Distal block	Cell Line	Cell type
1	chr1:70499830..70500350-chr1:70953253..70954208,2	K562	blood:
2	chr1:70499352..70501847-chr1:70502427..70503999,2	K562	blood:
3	chr1:70495317..70498678-chr1:70499423..70502142,3	K562	blood:

Variant related genes	Relation type
ENSG00000237919	TF binding region
ENSG00000237919	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10493463	1.00[CHB][hapmap];0.89[CHD][hapmap]
rs10493464	1.00[CHB][hapmap];0.89[CHD][hapmap]
rs10493465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10493466	0.92[CHB][hapmap];0.84[CHD][hapmap]
rs10493467	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs12025814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032951	0.85[GIH][hapmap]
rs12039381	1.00[CHB][hapmap]
rs12040020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12041478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12043672	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12048357	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17097485	1.00[CHB][hapmap];0.89[CHD][hapmap]
rs17097487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17097511	0.91[CHB][hapmap];0.89[CHD][hapmap]
rs17131136	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131139	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17507386	1.00[CEU][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2291777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4650016	1.00[CHB][hapmap]
rs632517	1.00[MKK][hapmap]
rs668525	1.00[MKK][hapmap]
rs721242	1.00[CHB][hapmap];0.89[CHD][hapmap]
rs725795	1.00[CHB][hapmap]
rs7354891	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv461795	chr1:70475794-70551339	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv546453	chr1:70475794-70551339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv461806	chr1:70494216-70566981	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv546454	chr1:70494216-70566981	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70464800-70509000	Weak transcription	Brain Angular Gyrus	brain
2	chr1:70478000-70503800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:70479400-70515600	Weak transcription	Fetal Brain Male	brain
4	chr1:70479800-70503800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:70485200-70503800	Weak transcription	Brain Germinal Matrix	brain
6	chr1:70485600-70503800	Weak transcription	Brain Anterior Caudate	brain
7	chr1:70488000-70503200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:70488000-70503800	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:70489400-70501400	Weak transcription	Fetal Brain Female	brain
10	chr1:70499200-70500600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:70499800-70500400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:70499800-70500400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:70499800-70500600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:70499800-70500800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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