Variant report

Variant	rs2244431
Chromosome Location	chr11:5506470-5506471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:5504973-5508441	K562	blood:	n/a	n/a
2	POLR2A	chr11:5504855-5512186	K562	blood:	n/a	n/a
3	POLR2A	chr11:5506430-5508425	K562	blood:	n/a	n/a
4	POLR2A	chr11:5505829-5508468	K562	blood:	n/a	n/a
5	POLR2A	chr11:5506265-5508138	K562	blood:	n/a	n/a
6	POLR2A	chr11:5506384-5509626	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4988858-5002113..11:5505728-5514500	Hela-S3	cervix:
2	chr11:5169508..5172348-chr11:5506409..5508300,2	K562	blood:

Variant related genes	Relation type
OR52D1	TF binding region
ENSG00000225003	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10742679	0.81[CHB][hapmap]
rs10838133	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs10838134	0.82[CHB][hapmap]
rs10838138	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs11037487	1.00[CEU][hapmap];0.88[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs11037502	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11037569	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs11037596	1.00[CEU][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs11037877	0.90[CHD][hapmap]
rs16931292	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2030090	0.82[CHB][hapmap]
rs2030094	0.82[CHB][hapmap]
rs2251225	1.00[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2647616	0.88[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.96[ASN][1000 genomes]
rs376085	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.96[ASN][1000 genomes]
rs397076	0.89[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.90[ASN][1000 genomes]
rs411752	0.94[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.98[ASN][1000 genomes]
rs438994	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs444459	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs449460	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs454814	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58652566	0.89[ASN][1000 genomes]
rs6578645	0.82[CHB][hapmap]
rs6578647	0.82[CHB][hapmap]
rs6578648	0.88[CHB][hapmap]
rs7120894	0.82[CHB][hapmap]
rs7938426	0.81[CHB][hapmap]
rs7942704	0.82[CHB][hapmap]
rs7948471	0.82[CHB][hapmap]

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	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
2	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv832057	chr11:5375585-5576200	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
4	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv1039285	chr11:5504861-5519672	Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1042308	chr11:5504861-5520062	Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv467670	chr11:5506034-5550630	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv553240	chr11:5506034-5550630	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2244431	CD58	trans	cerebellum	SCAN
rs2244431	IGF2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5505600-5506600	Strong transcription	K562	blood

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