Variant report

Variant	rs2682757
Chromosome Location	chr12:119020521-119020522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119019620..119021400-chr12:119023440..119025159,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11068999	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11069002	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12367551	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1356950	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1402341	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568440	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1818730	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1829566	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1879402	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1879404	1.00[ASN][1000 genomes]
rs1879407	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1879408	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1915347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1970874	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976824	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090774	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2203992	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249341	1.00[ASN][1000 genomes]
rs2393420	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682754	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2682759	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682762	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682764	1.00[ASN][1000 genomes]
rs2682765	1.00[ASN][1000 genomes]
rs2682766	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682768	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682769	0.80[EUR][1000 genomes]
rs2682770	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682771	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682774	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2730570	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730571	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730572	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730573	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730575	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730577	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730578	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2730579	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730580	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730583	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730584	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730585	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2730586	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730587	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730588	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55736618	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1038601	chr12:118958107-119023980	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1043906	chr12:118991884-119087146	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1793941	chr12:119006818-119022988	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119015400-119021000	Enhancers	Fetal Brain Male	brain
2	chr12:119019000-119021000	Enhancers	Brain Germinal Matrix	brain
3	chr12:119019400-119020800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:119019400-119021000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:119020000-119021400	Enhancers	Placenta	Placenta
6	chr12:119020400-119020600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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