Variant report

Variant	rs313806
Chromosome Location	chr7:65499211-65499212
allele	A/C
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	MAFK	chr7:65499016-65499313	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:65499195-65499378	HepG2	liver:	n/a	n/a
3	FOXA2	chr7:65499156-65499468	HepG2	liver:	n/a	n/a
4	MAFF	chr7:65499075-65499333	HepG2	liver:	n/a	n/a
5	MAFK	chr7:65499043-65499336	HepG2	liver:	n/a	n/a
6	EP300	chr7:65498341-65499926	SK-N-SH_RA	brain:	n/a	chr7:65498552-65498566
7	RAD21	chr7:65498392-65499259	SK-N-SH_RA	brain:	n/a	n/a
8	GATA3	chr7:65498906-65499996	SK-N-SH	brain:	n/a	chr7:65499399-65499408 chr7:65499498-65499505 chr7:65498953-65498966
9	MAFK	chr7:65498993-65499314	IMR90	lung:	n/a	n/a
10	RAD21	chr7:65498757-65499244	SK-N-SH_RA	brain:	n/a	n/a
11	FOXA1	chr7:65499021-65499479	HepG2	liver:	n/a	n/a
12	TCF12	chr7:65499199-65499816	SK-N-SH	brain:	n/a	chr7:65499334-65499343
13	TCF12	chr7:65498404-65500020	SK-N-SH	brain:	n/a	chr7:65499334-65499343
14	GATA3	chr7:65498451-65499768	SH-SY5Y	brain:	n/a	chr7:65499399-65499408 chr7:65499498-65499505 chr7:65498953-65498966
15	GATA3	chr7:65498842-65499818	SK-N-SH	brain:	n/a	chr7:65499399-65499408 chr7:65499498-65499505 chr7:65498953-65498966
16	GATA2	chr7:65498403-65499817	SH-SY5Y	brain:	n/a	chr7:65499399-65499408 chr7:65499498-65499505 chr7:65498953-65498966
17	NFIC	chr7:65498842-65499811	SK-N-SH	brain:	n/a	n/a
18	MAFK	chr7:65498979-65499585	Hela-S3	cervix:	n/a	n/a
19	EP300	chr7:65497163-65500235	SK-N-SH	brain:	n/a	chr7:65498552-65498566 chr7:65497304-65497318
20	FOXA1	chr7:65499090-65499471	HepG2	liver:	n/a	n/a
21	EP300	chr7:65498325-65500038	SK-N-SH_RA	brain:	n/a	chr7:65498552-65498566

Variant related genes	Relation type
ENSG00000229886	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12698511	0.82[EUR][1000 genomes]
rs1568850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35991661	1.00[ASN][1000 genomes]
rs431168	0.84[EUR][1000 genomes]
rs55737143	1.00[ASN][1000 genomes]
rs73150016	0.93[EUR][1000 genomes]
rs7792434	1.00[ASN][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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1025494	chr7:65402301-65515606	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv538906	chr7:65402301-65515606	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv11866	chr7:65498683-65500497	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs313806	GUSB	cis	Whole Blood	GTEx
rs313806	ASL	cis	multi-tissue	Pritchard
rs313806	VKORC1L1	cis	Whole Blood	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65492800-65502000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:65493400-65500000	Weak transcription	Lung	lung
3	chr7:65497400-65502200	Enhancers	Liver	Liver
4	chr7:65498400-65499600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:65498400-65499600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:65498400-65499800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:65498400-65499800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:65498400-65499800	Enhancers	HepG2	liver
9	chr7:65498400-65499800	Enhancers	NHDF-Ad	bronchial
10	chr7:65498400-65499800	Enhancers	NHLF	lung
11	chr7:65498400-65500000	Enhancers	Hela-S3	cervix
12	chr7:65498600-65499400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:65499000-65499600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:65499200-65500000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr7:65499200-65500600	Enhancers	Fetal Lung	lung
16	chr7:65499200-65508200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:65499200-65508600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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