Variant report

Variant	rs12999884
Chromosome Location	chr2:210072901-210072902
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209330724..209331762-chr2:210072595..210073780,7	MCF-7	breast:
2	chr2:209685011..209685630-chr2:210072613..210073438,3	MCF-7	breast:
3	chr2:209521522..209522845-chr2:210072588..210073484,4	MCF-7	breast:
4	chr2:209272322..209273071-chr2:210072607..210073525,2	K562	blood:
5	chr2:209684819..209685719-chr2:210072640..210073642,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227430	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10181524	1.00[EUR][1000 genomes]
rs10188154	1.00[EUR][1000 genomes]
rs10192007	1.00[EUR][1000 genomes]
rs10202928	1.00[EUR][1000 genomes]
rs12694155	1.00[EUR][1000 genomes]
rs12986446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12991611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12995006	1.00[EUR][1000 genomes]
rs12995332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12998272	1.00[CEU][hapmap]
rs12999670	1.00[CEU][hapmap]
rs13003135	1.00[EUR][1000 genomes]
rs13006419	0.86[EUR][1000 genomes]
rs13017472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1374338	0.86[EUR][1000 genomes]
rs1374339	0.86[EUR][1000 genomes]
rs1992772	0.86[EUR][1000 genomes]
rs34565674	0.83[AMR][1000 genomes]
rs34719629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35191402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35203732	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35289769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35358788	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35382863	0.86[EUR][1000 genomes]
rs35634353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35645004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35662507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35791583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35955770	0.83[AMR][1000 genomes]
rs36035019	0.86[EUR][1000 genomes]
rs61332285	0.83[AMR][1000 genomes]
rs66807492	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67654534	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72996582	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72996593	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73000407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73000497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv460059	chr2:210058383-210215272	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv584308	chr2:210058383-210215272	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1006506	chr2:210063871-210212039	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv536134	chr2:210063871-210212039	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210066000-210073000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:210072000-210075000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:210072400-210074800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr2:210072600-210073000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr2:210072600-210074200	Active TSS	H1 Cell Line	embryonic stem cell

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