Variant report

Variant	rs55983947
Chromosome Location	chr2:187887672-187887673
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187870104..187873054-chr2:187885358..187887702,2	K562	blood:
2	chr2:187886797..187888466-chr2:187901299..187904114,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs13007449	0.93[ASN][1000 genomes]
rs16828575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16828603	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16828623	0.88[EUR][1000 genomes]
rs16828674	0.88[EUR][1000 genomes]
rs4233793	0.83[EUR][1000 genomes]
rs4381752	0.82[EUR][1000 genomes]
rs4465740	0.82[EUR][1000 genomes]
rs4666718	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4667137	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4667139	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55637608	0.82[EUR][1000 genomes]
rs55763386	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55831424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55887912	0.82[EUR][1000 genomes]
rs55941489	0.88[EUR][1000 genomes]
rs55988918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56045439	0.82[EUR][1000 genomes]
rs56235386	0.82[EUR][1000 genomes]
rs56740282	0.82[EUR][1000 genomes]
rs58465774	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59567244	0.82[EUR][1000 genomes]
rs59832815	0.82[EUR][1000 genomes]
rs59938343	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73979610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73979626	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73979641	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73979644	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73979695	0.82[EUR][1000 genomes]
rs73981103	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv528437	chr2:187778830-187907901	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv999207	chr2:187787121-187924667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv536084	chr2:187787121-187924667	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv875553	chr2:187856937-188067355	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875554	chr2:187873808-187964942	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv834486	chr2:187876328-188032965	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187887400-187888000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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