Variant report

Variant	rs16823120
Chromosome Location	chr2:183220865-183220866
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	chr2:183220786..183225092-chr2:183225248..183228403,3	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10180347	1.00[EUR][1000 genomes]
rs10497596	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11884145	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11887150	1.00[EUR][1000 genomes]
rs11888602	0.91[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891405	1.00[EUR][1000 genomes]
rs11891890	1.00[EUR][1000 genomes]
rs11892984	1.00[EUR][1000 genomes]
rs11899043	1.00[EUR][1000 genomes]
rs11900878	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11902391	1.00[EUR][1000 genomes]
rs11903131	0.84[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1196063	1.00[TSI][hapmap]
rs13422439	1.00[EUR][1000 genomes]
rs16823144	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823168	1.00[EUR][1000 genomes]
rs16823171	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16823184	1.00[EUR][1000 genomes]
rs16823199	1.00[EUR][1000 genomes]
rs16823220	1.00[EUR][1000 genomes]
rs16823249	1.00[EUR][1000 genomes]
rs16823277	1.00[EUR][1000 genomes]
rs16823319	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs34384812	1.00[EUR][1000 genomes]
rs34558843	1.00[EUR][1000 genomes]
rs35196240	1.00[EUR][1000 genomes]
rs36105371	1.00[EUR][1000 genomes]
rs61069172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6724256	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6725460	1.00[EUR][1000 genomes]
rs73042483	1.00[EUR][1000 genomes]
rs73045406	1.00[EUR][1000 genomes]
rs73045415	1.00[EUR][1000 genomes]
rs73045418	1.00[EUR][1000 genomes]
rs73045422	1.00[EUR][1000 genomes]
rs73045434	1.00[EUR][1000 genomes]
rs73975018	1.00[EUR][1000 genomes]
rs7576178	1.00[EUR][1000 genomes]
rs7581210	1.00[ASW][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7601239	1.00[EUR][1000 genomes]
rs991927	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs994155	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv834481	chr2:183189758-183339577	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16823120	RASIP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183213600-183224400	Weak transcription	Aorta	Aorta
2	chr2:183215000-183222600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:183217400-183224200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:183219600-183223200	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:183220400-183221000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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