Variant report

Variant	rs5749433
Chromosome Location	chr22:32817167-32817168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:32806869..32809842-chr22:32816444..32820069,3	MCF-7	breast:
2	chr22:32806674..32809843-chr22:32815154..32819369,3	K562	blood:
3	chr22:32807581..32809843-chr22:32816573..32819369,2	K562	blood:

Variant related genes	Relation type
ENSG00000100220	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11089557	0.82[EUR][1000 genomes]
rs11089564	0.90[ASN][1000 genomes]
rs11635	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11912349	0.98[ASN][1000 genomes]
rs12160141	0.82[EUR][1000 genomes]
rs12160986	0.82[EUR][1000 genomes]
rs12628702	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987625	0.82[EUR][1000 genomes]
rs16990258	0.82[EUR][1000 genomes]
rs16990262	0.82[EUR][1000 genomes]
rs16990269	0.82[EUR][1000 genomes]
rs16990428	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16990430	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1810450	0.82[EUR][1000 genomes]
rs2014356	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072816	0.90[ASN][1000 genomes]
rs2076041	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2076045	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2281034	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2281035	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2294311	0.90[ASN][1000 genomes]
rs2294313	0.90[ASN][1000 genomes]
rs2294314	0.90[ASN][1000 genomes]
rs2413111	0.82[EUR][1000 genomes]
rs45593940	0.82[EUR][1000 genomes]
rs5749408	0.82[EUR][1000 genomes]
rs5749409	0.82[EUR][1000 genomes]
rs5749410	0.82[EUR][1000 genomes]
rs5749411	0.82[EUR][1000 genomes]
rs5749413	0.85[EUR][1000 genomes]
rs5749414	0.92[EUR][1000 genomes]
rs5749416	0.83[ASN][1000 genomes]
rs5749427	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749428	0.92[ASN][1000 genomes]
rs5749429	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5754006	0.82[EUR][1000 genomes]
rs5754007	0.82[EUR][1000 genomes]
rs5754008	0.82[EUR][1000 genomes]
rs5754010	0.82[EUR][1000 genomes]
rs5754011	0.82[EUR][1000 genomes]
rs5754012	0.82[EUR][1000 genomes]
rs5754017	0.82[EUR][1000 genomes]
rs5754018	0.82[EUR][1000 genomes]
rs5754019	0.82[EUR][1000 genomes]
rs5754025	0.82[EUR][1000 genomes]
rs5754029	0.82[EUR][1000 genomes]
rs5754032	0.82[EUR][1000 genomes]
rs5754033	0.82[EUR][1000 genomes]
rs5754039	0.85[EUR][1000 genomes]
rs5754042	0.85[EUR][1000 genomes]
rs5754045	0.85[EUR][1000 genomes]
rs5754047	0.85[EUR][1000 genomes]
rs5754048	0.85[EUR][1000 genomes]
rs5754050	0.85[EUR][1000 genomes]
rs5754065	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58028985	0.82[EUR][1000 genomes]
rs59895149	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5998453	0.82[EUR][1000 genomes]
rs5998457	0.82[EUR][1000 genomes]
rs5998459	0.82[EUR][1000 genomes]
rs5998475	0.90[ASN][1000 genomes]
rs713790	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs742096	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1055701	chr22:32806595-32845403	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5749433	SLC5A4	cis	Muscle Skeletal	GTEx
rs5749433	RFPL3S	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32808200-32818000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:32808400-32818000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:32809000-32817600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:32817000-32818200	Enhancers	Liver	Liver

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