Variant report

Variant	rs428002
Chromosome Location	chr2:32487774-32487775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32479156..32481835-chr2:32486944..32488705,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11124276	0.84[EUR][1000 genomes]
rs11124277	0.84[EUR][1000 genomes]
rs11681731	0.87[EUR][1000 genomes]
rs11686061	0.84[EUR][1000 genomes]
rs12474443	0.83[EUR][1000 genomes]
rs12617289	0.87[EUR][1000 genomes]
rs12617290	0.86[EUR][1000 genomes]
rs1265340	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1265341	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13022197	0.87[EUR][1000 genomes]
rs212678	0.86[EUR][1000 genomes]
rs212679	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs212695	0.85[EUR][1000 genomes]
rs212698	0.81[EUR][1000 genomes]
rs212699	0.82[EUR][1000 genomes]
rs212701	0.82[EUR][1000 genomes]
rs212715	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs212716	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs212717	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs212718	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs212721	0.80[EUR][1000 genomes]
rs212722	0.86[EUR][1000 genomes]
rs212723	0.88[EUR][1000 genomes]
rs212724	0.90[EUR][1000 genomes]
rs212725	0.90[EUR][1000 genomes]
rs212726	0.90[EUR][1000 genomes]
rs212727	0.90[EUR][1000 genomes]
rs212728	0.90[EUR][1000 genomes]
rs212730	0.90[EUR][1000 genomes]
rs212731	0.90[EUR][1000 genomes]
rs212733	0.87[EUR][1000 genomes]
rs212734	0.80[EUR][1000 genomes]
rs212735	0.90[EUR][1000 genomes]
rs212737	0.90[EUR][1000 genomes]
rs212739	0.90[EUR][1000 genomes]
rs212745	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs212746	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs212760	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2235134	0.87[EUR][1000 genomes]
rs2365558	0.86[EUR][1000 genomes]
rs2566483	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374743	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769604	0.83[EUR][1000 genomes]
rs385076	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs408813	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs430759	0.82[EUR][1000 genomes]
rs435572	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs443609	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs455060	0.90[EUR][1000 genomes]
rs466126	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs472101	0.83[ASN][1000 genomes]
rs479333	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494569	0.87[EUR][1000 genomes]
rs4952247	0.85[EUR][1000 genomes]
rs4952249	0.82[EUR][1000 genomes]
rs4952250	0.86[EUR][1000 genomes]
rs56861054	0.96[ASN][1000 genomes]
rs59966205	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62134033	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6543649	0.86[EUR][1000 genomes]
rs659239	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6738349	0.82[EUR][1000 genomes]
rs6747488	0.83[EUR][1000 genomes]
rs7559964	0.85[EUR][1000 genomes]
rs7561519	0.83[EUR][1000 genomes]
rs7566162	0.84[EUR][1000 genomes]
rs7573543	0.87[EUR][1000 genomes]
rs7581032	0.85[EUR][1000 genomes]
rs7581340	0.86[EUR][1000 genomes]
rs7605242	0.84[EUR][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	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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32480200-32488000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:32486600-32489400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr2:32486800-32489200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr2:32487000-32487800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:32487000-32489200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr2:32487000-32489600	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:32487200-32487800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:32487200-32490600	Active TSS	Primary hematopoietic stem cells	blood
9	chr2:32487400-32490600	Weak transcription	K562	blood
10	chr2:32487600-32487800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr2:32487600-32487800	Enhancers	Placenta	Placenta
12	chr2:32487600-32487800	Enhancers	Rectal Mucosa Donor 31	rectum

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