Variant report

Variant	rs1480119
Chromosome Location	chr8:63773701-63773702
allele	C/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	FOS	chr8:63773517-63773985	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA3	chr8:63773342-63773750	MCF-7	breast:	n/a	n/a
3	FOS	chr8:63773420-63773970	MCF10A-Er-Src	breast:	n/a	n/a
4	FOXA1	chr8:63773380-63773745	T-47D	breast:	n/a	n/a
5	FOS	chr8:63773673-63773970	MCF10A-Er-Src	breast:	n/a	n/a
6	GATA3	chr8:63773403-63773738	T-47D	breast:	n/a	n/a
7	FOS	chr8:63773680-63773962	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr8:63773485-63773770	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
XRCC6P4	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10092338	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102831	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107381	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282884	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282893	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504356	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504359	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1600534	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929879	0.92[EUR][1000 genomes]
rs17182014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17266243	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17275944	0.92[EUR][1000 genomes]
rs1904571	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2085251	0.92[EUR][1000 genomes]
rs2085253	0.92[EUR][1000 genomes]
rs28387373	0.88[EUR][1000 genomes]
rs28494990	0.92[EUR][1000 genomes]
rs28549153	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28767608	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28825674	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28881312	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4636200	0.93[EUR][1000 genomes]
rs55641737	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55919907	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55933624	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56047308	0.92[EUR][1000 genomes]
rs56252369	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56653385	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58210668	0.92[EUR][1000 genomes]
rs62508064	0.88[EUR][1000 genomes]
rs62509402	0.89[EUR][1000 genomes]
rs62510765	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62510766	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62510767	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62510768	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62510770	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62510773	0.80[EUR][1000 genomes]
rs62510774	0.82[EUR][1000 genomes]
rs62510775	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62510778	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62510779	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62510780	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62510781	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62510782	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62510783	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62510825	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62510826	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62510836	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6999540	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72653293	0.90[EUR][1000 genomes]
rs72653295	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72653296	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72653299	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655008	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655038	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9785076	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv831341	chr8:63658694-63852213	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv890961	chr8:63708519-63773787	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv890962	chr8:63708519-63812686	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv398476	chr8:63772081-63779449	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1480119	GGH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63759000-63776400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:63773000-63774800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:63773600-63775800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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