Variant report

Variant	rs12329212
Chromosome Location	chr2:189737983-189737984
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	chr2:189733529..189735881-chr2:189735905..189738655,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10153879	0.90[AFR][1000 genomes]
rs10153942	0.88[AFR][1000 genomes]
rs10178402	0.88[AFR][1000 genomes]
rs10194169	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10205357	0.90[AFR][1000 genomes]
rs10205533	0.80[YRI][hapmap]
rs10931384	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13400242	1.00[AMR][1000 genomes]
rs13415010	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13425426	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13427060	0.88[AFR][1000 genomes]
rs28460253	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28623454	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28644358	0.95[AFR][1000 genomes]
rs28681308	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28711483	0.84[AFR][1000 genomes]
rs6746601	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7589250	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9808075	0.83[AFR][1000 genomes]
rs9808167	0.88[AFR][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	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv834490	chr2:189703550-189840963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv4236	chr2:189730546-189740139	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv821858	chr2:189733808-189740029	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189735200-189740000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:189737200-189743200	Weak transcription	Fetal Lung	lung

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