Variant report

Variant	rs56963017
Chromosome Location	chr2:49040782-49040783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10495961	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12991843	0.90[ASN][1000 genomes]
rs13009992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014387	0.81[EUR][1000 genomes]
rs13014494	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13015025	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13025362	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026157	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483876	0.90[ASN][1000 genomes]
rs17556035	0.90[ASN][1000 genomes]
rs34339121	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34375934	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34428472	0.90[ASN][1000 genomes]
rs35302900	0.82[EUR][1000 genomes]
rs4374422	1.00[ASN][1000 genomes]
rs4432506	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4525742	0.95[ASN][1000 genomes]
rs4533511	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4558635	0.95[ASN][1000 genomes]
rs55663001	1.00[ASN][1000 genomes]
rs55712456	0.90[ASN][1000 genomes]
rs55930451	1.00[ASN][1000 genomes]
rs55971673	1.00[ASN][1000 genomes]
rs56218371	0.88[AFR][1000 genomes]
rs57463767	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs58176203	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs58718281	1.00[ASN][1000 genomes]
rs59230684	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs59263252	0.90[ASN][1000 genomes]
rs60324887	0.95[ASN][1000 genomes]
rs60732263	0.90[ASN][1000 genomes]
rs61020573	0.90[ASN][1000 genomes]
rs6706022	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67138907	1.00[ASN][1000 genomes]
rs6721247	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734547	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811832	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72811860	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72811867	1.00[ASN][1000 genomes]
rs72811870	1.00[ASN][1000 genomes]
rs72811872	0.95[ASN][1000 genomes]
rs72811873	0.95[ASN][1000 genomes]
rs72811885	0.90[ASN][1000 genomes]
rs72811892	0.90[ASN][1000 genomes]
rs72823283	0.90[ASN][1000 genomes]
rs7423715	0.90[ASN][1000 genomes]
rs7567401	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7591357	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7594280	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7594367	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7597830	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv998864	chr2:49015878-49230000	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1014434	chr2:49016279-49053699	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1011016	chr2:49031921-49053699	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2763577	chr2:49035249-49053711	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv518963	chr2:49038154-49052293	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48994600-49080200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:49037200-49045400	Weak transcription	Ovary	ovary
3	chr2:49039800-49043600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:49040400-49041200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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