Variant report

Variant	rs7835131
Chromosome Location	chr8:110371435-110371436
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	STAT3	chr8:110371404-110371605	MCF10A-Er-Src	breast:	n/a	chr8:110371424-110371435 chr8:110371426-110371449
2	FOS	chr8:110371370-110371609	HUVEC	blood vessel:	n/a	n/a
3	STAT3	chr8:110371312-110371538	MCF10A-Er-Src	breast:	n/a	chr8:110371424-110371435 chr8:110371426-110371449
4	FOS	chr8:110371354-110371655	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr8:110371338-110371666	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr8:110371390-110371655	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr8:110371259-110371614	MCF10A-Er-Src	breast:	n/a	chr8:110371424-110371435 chr8:110371426-110371449

No.	Distal block	Cell Line	Cell type
1	chr8:110367088..110368622-chr8:110370242..110371743,2	K562	blood:
2	chr8:110371418..110373000-chr8:110550789..110552367,2	K562	blood:
3	chr8:110365000..110368622-chr8:110368906..110372128,4	K562	blood:
4	chr8:110371146..110373102-chr8:110382024..110383577,2	K562	blood:
5	chr8:110369620..110372095-chr8:110373747..110377477,3	K562	blood:

Variant related genes	Relation type
PKHD1L1	TF binding region
ENSG00000147654	Chromatin interaction
ENSG00000205038	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10093885	0.95[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100944	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108704	1.00[ASN][1000 genomes]
rs11550169	1.00[JPT][hapmap]
rs11778756	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784792	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785973	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438836	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563581	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17368044	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17375750	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17445342	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17446406	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463252	1.00[ASN][1000 genomes]
rs28491535	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55800074	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56109503	0.80[EUR][1000 genomes]
rs56379526	0.80[EUR][1000 genomes]
rs59237049	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60189528	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61467163	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6469255	1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469264	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6982826	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6995033	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6999170	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008687	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669109	0.80[EUR][1000 genomes]
rs72669111	0.80[EUR][1000 genomes]
rs72682697	1.00[ASN][1000 genomes]
rs72684719	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684799	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687010	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687015	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816624	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817639	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818929	1.00[ASN][1000 genomes]
rs7820734	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836433	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842842	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs9656791	0.95[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656881	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891280	chr8:110346363-110465481	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv3324923	chr8:110370872-110377960	Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7835131	Hs.171169	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110364800-110374800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:110367400-110372600	Weak transcription	K562	blood
3	chr8:110371200-110374400	Weak transcription	Right Atrium	heart

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