Variant report

Variant	rs7619694
Chromosome Location	chr3:120558109-120558110
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	BACH1	chr3:120557921-120558355	K562	blood:	n/a	n/a
2	MAFF	chr3:120558013-120558372	HepG2	liver:	n/a	chr3:120558188-120558206
3	MAFK	chr3:120558028-120558369	IMR90	lung:	n/a	chr3:120558189-120558204
4	MAFK	chr3:120558060-120558364	Hela-S3	cervix:	n/a	chr3:120558189-120558204
5	BACH1	chr3:120557572-120558549	H1-hESC	embryonic stem cell:	n/a	n/a
6	IRF1	chr3:120558013-120558338	K562	blood:	n/a	n/a
7	MAFF	chr3:120558000-120558380	K562	blood:	n/a	chr3:120558188-120558206
8	MAFK	chr3:120558017-120558376	HepG2	liver:	n/a	chr3:120558189-120558204
9	MAFK	chr3:120558008-120558385	K562	blood:	n/a	chr3:120558189-120558204
10	MAFK	chr3:120557840-120558377	H1-hESC	embryonic stem cell:	n/a	chr3:120558189-120558204
11	MAFK	chr3:120558007-120558378	HepG2	liver:	n/a	chr3:120558189-120558204
12	STAT3	chr3:120558052-120558366	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000243593	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1032897	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706251	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709397	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710917	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12107541	1.00[ASN][1000 genomes]
rs17185597	1.00[CHB][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17185716	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17245198	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1850293	1.00[ASN][1000 genomes]
rs2171168	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4676831	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56138252	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57040003	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57187956	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58363431	1.00[ASN][1000 genomes]
rs59011025	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630743	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438595	1.00[ASN][1000 genomes]
rs6438596	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72962690	1.00[ASN][1000 genomes]
rs72962694	1.00[ASN][1000 genomes]
rs72964728	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73855281	0.83[ASN][1000 genomes]
rs7612901	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9968109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1005396	chr3:120460741-120580319	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	11 gene(s)	inside rSNPs	diseases
7	nsv829700	chr3:120469191-120675763	Strong transcription Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1012541	chr3:120482402-120580319	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv1014477	chr3:120482402-120583166	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv877380	chr3:120522716-120606438	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7619694	STXBP5L	cis	parietal	SCAN
rs7619694	PARP14	cis	cerebellum	SCAN
rs7619694	SLC12A8	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120557400-120558400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:120557400-120558600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr3:120557400-120558600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:120557600-120558200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:120557600-120558200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:120557600-120558400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:120557600-120558600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:120557800-120558400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:120557800-120558600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:120557800-120558600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:120557800-120558600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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