Variant report

Variant	rs34651530
Chromosome Location	chr1:222985197-222985198
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	EP300	chr1:222984954-222985399	HepG2	liver:	n/a	n/a
2	FOXA2	chr1:222985041-222985516	HepG2	liver:	n/a	n/a
3	HNF4A	chr1:222984979-222985386	HepG2	liver:	n/a	chr1:222985180-222985195 chr1:222985177-222985199
4	HNF4G	chr1:222984995-222985360	HepG2	liver:	n/a	chr1:222985177-222985199
5	HNF4G	chr1:222984924-222985404	HepG2	liver:	n/a	chr1:222985177-222985199
6	HDAC2	chr1:222984978-222985378	HepG2	liver:	n/a	n/a
7	HNF4A	chr1:222985006-222985379	HepG2	liver:	n/a	chr1:222985180-222985195 chr1:222985177-222985199
8	ELF1	chr1:222984988-222985244	HepG2	liver:	n/a	n/a
9	HNF4A	chr1:222985052-222985358	HepG2	liver:	n/a	chr1:222985180-222985195 chr1:222985177-222985199

Variant related genes	Relation type
ENSG00000228106	TF binding region
DISP1	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10495202	0.82[EUR][1000 genomes]
rs1132369	0.82[EUR][1000 genomes]
rs1132371	0.82[EUR][1000 genomes]
rs17011765	0.96[ASN][1000 genomes]
rs17475431	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17475753	0.82[EUR][1000 genomes]
rs17475774	1.00[ASW][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs17534704	0.82[EUR][1000 genomes]
rs17534774	1.00[ASW][hapmap];0.88[TSI][hapmap]
rs17535004	0.82[EUR][1000 genomes]
rs17535032	0.80[EUR][1000 genomes]
rs17535137	0.82[EUR][1000 genomes]
rs17536209	1.00[ASW][hapmap]
rs2378600	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28362013	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs34096996	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34139393	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34151467	0.82[EUR][1000 genomes]
rs34225287	0.82[EUR][1000 genomes]
rs34229647	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.84[TSI][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs34232799	1.00[ASW][hapmap]
rs34277924	0.82[EUR][1000 genomes]
rs34282641	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34299243	0.82[EUR][1000 genomes]
rs34300028	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34505570	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs34690779	0.82[EUR][1000 genomes]
rs34713681	0.82[EUR][1000 genomes]
rs34755094	0.82[EUR][1000 genomes]
rs34761499	0.82[EUR][1000 genomes]
rs34769382	0.93[EUR][1000 genomes]
rs34791822	0.82[EUR][1000 genomes]
rs34804073	0.82[EUR][1000 genomes]
rs34830798	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34893395	0.82[EUR][1000 genomes]
rs34898792	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34950986	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs35131473	0.82[EUR][1000 genomes]
rs35197173	0.84[EUR][1000 genomes]
rs35270311	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35283922	0.82[EUR][1000 genomes]
rs35356885	0.82[EUR][1000 genomes]
rs35399857	0.82[EUR][1000 genomes]
rs35497286	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs35506390	1.00[ASW][hapmap]
rs35591569	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35756512	0.82[EUR][1000 genomes]
rs35787799	0.85[EUR][1000 genomes]
rs36032255	0.82[EUR][1000 genomes]
rs36066427	0.82[EUR][1000 genomes]
rs36090356	0.81[EUR][1000 genomes]
rs4609435	1.00[CHB][hapmap]
rs61838105	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61838107	1.00[AFR][1000 genomes]
rs61838113	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61838115	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61838118	0.82[EUR][1000 genomes]
rs61838119	0.82[EUR][1000 genomes]
rs61839587	0.82[EUR][1000 genomes]
rs61839588	0.82[EUR][1000 genomes]
rs61839600	0.82[EUR][1000 genomes]
rs61839601	0.81[EUR][1000 genomes]
rs61839602	0.81[EUR][1000 genomes]
rs71644708	0.82[EUR][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription 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	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222958800-222987800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:222983600-222987800	Enhancers	HepG2	liver
3	chr1:222984000-222985200	Weak transcription	Fetal Intestine Small	intestine
4	chr1:222984200-222987200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:222984600-222985400	Enhancers	Fetal Kidney	kidney
6	chr1:222984600-222986600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:222985000-222985600	Enhancers	Fetal Intestine Large	intestine

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