Variant report

Variant	rs10843398
Chromosome Location	chr12:29537294-29537295
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	CTCF	chr12:29537231-29537305	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr12:29537260-29537410	GM12869	blood:	n/a	n/a
3	RAD21	chr12:29537266-29537335	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr12:29537160-29537310	WERI-Rb-1	eye:	n/a	n/a

Variant related genes	Relation type
OVCH1-AS1	TF binding region
ERGIC2	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10082956	0.82[AFR][1000 genomes]
rs10128781	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1035606	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10743657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843390	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10843391	0.86[YRI][hapmap];0.80[AFR][1000 genomes]
rs10843397	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10843403	0.81[CEU][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11050203	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs11050209	0.83[AFR][1000 genomes]
rs1156242	0.82[AFR][1000 genomes]
rs12228468	0.90[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs12831751	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs1989478	0.90[ASN][1000 genomes]
rs2278093	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2278094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3782513	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs3815843	0.91[YRI][hapmap]
rs3847678	0.91[CHB][hapmap]
rs4931177	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4931178	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6487804	0.83[ASN][1000 genomes]
rs6487813	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6487815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6487818	0.80[ASN][1000 genomes]
rs7139273	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs7297435	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7302557	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7311742	0.83[AFR][1000 genomes]
rs7315504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs737160	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs962866	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs9651802	0.82[AFR][1000 genomes]
rs966540	0.83[AFR][1000 genomes]
rs996498	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9989017	1.00[YRI][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29535000-29537800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:29535000-29537800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:29535600-29542600	Weak transcription	Hela-S3	cervix
4	chr12:29535600-29543400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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