Variant report

Variant	rs13005325
Chromosome Location	chr2:189019165-189019166
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189019149..189021325-chr2:189022455..189024861,2	K562	blood:
2	chr2:189016643..189020649-chr2:189022455..189025667,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10460382	0.86[ASN][1000 genomes]
rs10931333	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10931334	0.80[AMR][1000 genomes]
rs10931336	0.80[AMR][1000 genomes]
rs12478374	0.86[ASN][1000 genomes]
rs12615631	0.86[ASN][1000 genomes]
rs12990029	0.80[ASN][1000 genomes]
rs12992671	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12995107	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13006933	0.80[ASN][1000 genomes]
rs13011049	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13015608	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13021054	0.86[ASN][1000 genomes]
rs13021984	0.86[ASN][1000 genomes]
rs13023212	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13024023	0.86[ASN][1000 genomes]
rs13027011	0.80[AMR][1000 genomes]
rs13027148	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13027989	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13029662	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1371527	0.86[ASN][1000 genomes]
rs1371528	0.86[ASN][1000 genomes]
rs1371529	0.86[ASN][1000 genomes]
rs1439898	0.86[ASN][1000 genomes]
rs1439900	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1439901	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1439909	0.86[ASN][1000 genomes]
rs16829839	0.86[ASN][1000 genomes]
rs2028374	0.86[ASN][1000 genomes]
rs2350563	0.86[ASN][1000 genomes]
rs2882449	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34142137	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34395949	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34555222	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34699014	0.80[ASN][1000 genomes]
rs34836837	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35113537	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35143496	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35311707	0.86[ASN][1000 genomes]
rs35355034	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35699394	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4427987	0.86[ASN][1000 genomes]
rs4666757	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4667212	0.86[ASN][1000 genomes]
rs4667213	0.80[AMR][1000 genomes]
rs55755436	0.86[ASN][1000 genomes]
rs62180847	0.86[ASN][1000 genomes]
rs6434262	0.86[ASN][1000 genomes]
rs6707652	0.86[ASN][1000 genomes]
rs67082838	0.80[ASN][1000 genomes]
rs6712945	0.86[ASN][1000 genomes]
rs6723998	0.86[ASN][1000 genomes]
rs67732490	0.80[ASN][1000 genomes]
rs67804711	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs68028976	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72907984	0.80[ASN][1000 genomes]
rs72909886	0.80[ASN][1000 genomes]
rs72911800	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7565935	0.80[ASN][1000 genomes]
rs920408	0.86[ASN][1000 genomes]
rs971268	0.86[ASN][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	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875603	chr2:188923773-189025977	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1002714	chr2:188934297-189025084	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv875604	chr2:188957640-189043137	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
6	nsv875605	chr2:189017499-189080087	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189004600-189026000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:189011000-189021000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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