Variant report

Variant	rs7564935
Chromosome Location	chr2:234645186-234645187
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	MYBL2	chr2:234645124-234646236	HepG2	liver:	n/a	n/a
2	FOXA1	chr2:234644863-234645202	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000248114	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10167119	0.88[CEU][hapmap]
rs10178992	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10179094	0.88[CEU][hapmap]
rs10197460	0.88[CEU][hapmap]
rs10929302	0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs11673726	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11695484	0.95[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs11888459	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11891311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13401281	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13410335	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17862875	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17864701	0.95[ASN][1000 genomes]
rs1875263	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1983023	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2018985	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2885296	0.94[ASN][1000 genomes]
rs34352510	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3771341	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3806592	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4148324	0.83[ASW][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.93[LWK][hapmap];0.91[ASN][1000 genomes]
rs4148325	0.95[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs4341922	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4477910	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4530361	0.91[CEU][hapmap]
rs6431625	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6714634	0.95[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs6722076	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6725478	0.91[CEU][hapmap]
rs6742078	0.83[ASW][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.98[LWK][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6744284	0.82[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6747843	0.94[ASN][1000 genomes]
rs6749496	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7567468	1.00[ASN][1000 genomes]
rs7577677	0.88[CEU][hapmap]
rs7583278	0.91[CEU][hapmap]
rs7586110	0.88[CEU][hapmap]
rs7604115	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs869283	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs887829	0.83[ASW][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.82[LWK][hapmap];0.91[ASN][1000 genomes]
rs929596	0.94[ASW][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.89[LWK][hapmap];0.87[AFR][1000 genomes];0.89[ASN][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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv3215	chr2:234631123-234670276	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv1811811	chr2:234633964-234709430	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv3385718	chr2:234638378-234656442	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7564935	SP110	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234620400-234659200	Weak transcription	Colonic Mucosa	Colon
2	chr2:234620600-234652200	Weak transcription	Esophagus	oesophagus
3	chr2:234626200-234649600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:234626600-234668400	Weak transcription	NHEK	skin
5	chr2:234634600-234648400	Weak transcription	A549	lung
6	chr2:234639000-234645600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:234639400-234645800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:234645000-234645400	Flanking Active TSS	Liver	Liver
9	chr2:234645000-234646200	Enhancers	Fetal Intestine Small	intestine
10	chr2:234645000-234646200	Flanking Active TSS	HepG2	liver

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