Variant report

Variant	rs11904544
Chromosome Location	chr2:183981863-183981864
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183942521..183944578-chr2:183980527..183982888,2	K562	blood:
2	chr2:183977949..183985615-chr2:183986503..183991971,13	K562	blood:
3	chr2:183981717..183985228-chr2:183986533..183989454,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163002	Chromatin interaction
ENSG00000162999	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10200235	1.00[EUR][1000 genomes]
rs1037968	1.00[EUR][1000 genomes]
rs10497619	1.00[ASN][1000 genomes]
rs11884352	1.00[EUR][1000 genomes]
rs11887082	1.00[EUR][1000 genomes]
rs11889321	1.00[EUR][1000 genomes]
rs11890957	1.00[EUR][1000 genomes]
rs11898922	1.00[EUR][1000 genomes]
rs11899136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11900146	1.00[EUR][1000 genomes]
rs13422583	1.00[EUR][1000 genomes]
rs13425514	1.00[EUR][1000 genomes]
rs13432715	1.00[EUR][1000 genomes]
rs1462522	1.00[EUR][1000 genomes]
rs1462523	1.00[EUR][1000 genomes]
rs16823994	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823997	1.00[ASN][1000 genomes]
rs16824007	1.00[ASN][1000 genomes]
rs16824045	1.00[ASN][1000 genomes]
rs16824047	1.00[EUR][1000 genomes]
rs16824100	1.00[EUR][1000 genomes]
rs16824103	1.00[EUR][1000 genomes]
rs16824136	1.00[EUR][1000 genomes]
rs16824139	1.00[EUR][1000 genomes]
rs16824141	1.00[EUR][1000 genomes]
rs16824239	1.00[EUR][1000 genomes]
rs17758295	1.00[ASN][1000 genomes]
rs2045760	1.00[EUR][1000 genomes]
rs2061657	1.00[EUR][1000 genomes]
rs2368356	1.00[EUR][1000 genomes]
rs2368374	1.00[EUR][1000 genomes]
rs28807996	1.00[EUR][1000 genomes]
rs34386785	1.00[EUR][1000 genomes]
rs55985024	1.00[EUR][1000 genomes]
rs56987972	1.00[EUR][1000 genomes]
rs57022552	1.00[EUR][1000 genomes]
rs58726290	1.00[EUR][1000 genomes]
rs58782215	1.00[EUR][1000 genomes]
rs59648361	1.00[EUR][1000 genomes]
rs60159376	1.00[EUR][1000 genomes]
rs60835883	1.00[EUR][1000 genomes]
rs60857445	1.00[EUR][1000 genomes]
rs61190837	1.00[EUR][1000 genomes]
rs61212352	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434010	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751386	1.00[EUR][1000 genomes]
rs6759272	1.00[EUR][1000 genomes]
rs73040916	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73042731	1.00[EUR][1000 genomes]
rs73042751	1.00[EUR][1000 genomes]
rs73042792	1.00[EUR][1000 genomes]
rs73044730	1.00[EUR][1000 genomes]
rs73050588	1.00[EUR][1000 genomes]
rs7584084	1.00[ASN][1000 genomes]
rs7584986	1.00[EUR][1000 genomes]
rs898947	1.00[EUR][1000 genomes]
rs955597	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	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
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3356302	chr2:183962495-183989877	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183954600-183988400	Weak transcription	Aorta	Aorta

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