Variant report

Variant	rs408813
Chromosome Location	chr2:32476390-32476391
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32469608..32472298-chr2:32474844..32477443,2	K562	blood:
2	chr2:32476245..32477748-chr2:32507604..32509921,2	K562	blood:
3	chr2:32474270..32479271-chr2:32479320..32483848,6	K562	blood:
4	chr2:32463297..32465974-chr2:32475784..32478393,2	K562	blood:
5	chr2:32470343..32473625-chr2:32476011..32478727,4	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11124276	0.86[EUR][1000 genomes]
rs11124277	0.86[EUR][1000 genomes]
rs11681731	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11686061	0.86[EUR][1000 genomes]
rs12474443	0.85[EUR][1000 genomes]
rs12617289	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12617290	0.87[EUR][1000 genomes]
rs1265340	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1265341	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13022197	0.88[EUR][1000 genomes]
rs212678	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs212679	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs212695	0.87[EUR][1000 genomes]
rs212698	0.82[EUR][1000 genomes]
rs212699	0.83[EUR][1000 genomes]
rs212701	0.83[EUR][1000 genomes]
rs212714	0.81[EUR][1000 genomes]
rs212715	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs212716	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs212717	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs212718	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs212721	0.81[EUR][1000 genomes]
rs212722	0.87[EUR][1000 genomes]
rs212723	0.89[EUR][1000 genomes]
rs212724	0.91[EUR][1000 genomes]
rs212725	0.91[EUR][1000 genomes]
rs212726	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs212727	0.91[EUR][1000 genomes]
rs212728	0.91[EUR][1000 genomes]
rs212730	0.91[EUR][1000 genomes]
rs212731	0.91[EUR][1000 genomes]
rs212733	0.88[EUR][1000 genomes]
rs212734	0.81[EUR][1000 genomes]
rs212735	0.91[EUR][1000 genomes]
rs212737	0.91[EUR][1000 genomes]
rs212739	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs212745	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs212746	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs212760	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2235134	0.88[EUR][1000 genomes]
rs2365558	0.87[EUR][1000 genomes]
rs2566483	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34856365	0.80[EUR][1000 genomes]
rs374743	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3769604	0.85[EUR][1000 genomes]
rs385076	0.80[EUR][1000 genomes]
rs428002	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs430759	0.84[EUR][1000 genomes]
rs435572	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs443609	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs455060	0.91[EUR][1000 genomes]
rs466126	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs472101	0.82[ASN][1000 genomes]
rs479333	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs494569	0.88[EUR][1000 genomes]
rs4952247	0.86[EUR][1000 genomes]
rs4952249	0.84[EUR][1000 genomes]
rs4952250	0.87[EUR][1000 genomes]
rs56861054	0.95[ASN][1000 genomes]
rs59966205	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62134033	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6543649	0.87[EUR][1000 genomes]
rs659239	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6738349	0.83[EUR][1000 genomes]
rs6747488	0.85[EUR][1000 genomes]
rs6760105	0.80[EUR][1000 genomes]
rs7559964	0.86[EUR][1000 genomes]
rs7561519	0.85[EUR][1000 genomes]
rs7566162	0.86[EUR][1000 genomes]
rs7573543	0.88[EUR][1000 genomes]
rs7581032	0.86[EUR][1000 genomes]
rs7581340	0.88[EUR][1000 genomes]
rs7605242	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv2667	chr2:32444810-32489755	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv1002120	chr2:32470452-32539443	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1004279	chr2:32470452-32543369	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32443000-32483600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:32443200-32483800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:32447400-32483800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:32448800-32484800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:32452200-32479400	Weak transcription	Adipose Nuclei	Adipose
6	chr2:32460000-32477000	Weak transcription	Placenta	Placenta
7	chr2:32463600-32487000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:32470600-32477000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:32474200-32476600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:32474400-32476800	Weak transcription	Brain Angular Gyrus	brain
11	chr2:32475000-32481200	Weak transcription	Fetal Heart	heart
12	chr2:32475400-32476600	Strong transcription	Spleen	Spleen
13	chr2:32475400-32477600	Strong transcription	Primary B cells from cord blood	blood
14	chr2:32475600-32476400	Strong transcription	Lung	lung
15	chr2:32475800-32476600	Enhancers	HepG2	liver

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