Variant report

Variant	rs12575515
Chromosome Location	chr11:64187446-64187447
allele	C/T
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	NFIC	chr11:64187234-64187844	ECC-1	luminal epithelium:	n/a	n/a
2	RCOR1	chr11:64187355-64187580	K562	blood:	n/a	n/a
3	NFIC	chr11:64187215-64187890	ECC-1	luminal epithelium:	n/a	n/a
4	RCOR1	chr11:64187389-64187589	K562	blood:	n/a	n/a
5	SETDB1	chr11:64187331-64188282	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64186214..64187836-chr11:64216111..64217679,2	K562	blood:
2	11:64187414-64187725..11:64402707-64415880	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000231492	TF binding region
ENSG00000237410	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000181908	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10128649	0.84[ASN][1000 genomes]
rs10556	0.82[ASN][1000 genomes]
rs10732887	0.98[ASN][1000 genomes]
rs1207462	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1213140	0.80[ASN][1000 genomes]
rs12281471	0.89[ASN][1000 genomes]
rs12283639	0.89[ASN][1000 genomes]
rs12287065	0.82[ASN][1000 genomes]
rs12574188	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12575690	0.91[ASN][1000 genomes]
rs12577422	0.98[ASN][1000 genomes]
rs12577425	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs1320688	0.87[CHD][hapmap]
rs1468558	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs17159027	1.00[CHB][hapmap];0.87[CHD][hapmap];0.84[ASN][1000 genomes]
rs17159251	1.00[EUR][1000 genomes]
rs1783518	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2232410	1.00[CHB][hapmap];0.87[CHD][hapmap];0.84[ASN][1000 genomes]
rs2282548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2286612	1.00[CHB][hapmap]
rs2289572	0.91[ASN][1000 genomes]
rs2302262	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs34318219	1.00[EUR][1000 genomes]
rs3759056	0.89[ASN][1000 genomes]
rs473379	1.00[ASN][1000 genomes]
rs474430	0.94[ASN][1000 genomes]
rs490720	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930167	0.98[ASN][1000 genomes]
rs493052	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs494998	1.00[ASN][1000 genomes]
rs4963221	0.90[ASN][1000 genomes]
rs518698	0.98[ASN][1000 genomes]
rs520277	0.98[ASN][1000 genomes]
rs539008	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539250	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs543767	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs554812	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569741	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs575081	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58010797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58488481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58721876	0.82[ASN][1000 genomes]
rs59283629	0.82[ASN][1000 genomes]
rs60421451	0.84[ASN][1000 genomes]
rs60579179	0.98[ASN][1000 genomes]
rs61431997	0.82[ASN][1000 genomes]
rs621816	0.82[ASN][1000 genomes]
rs6591855	1.00[EUR][1000 genomes]
rs7110262	0.82[ASN][1000 genomes]
rs7121001	0.98[ASN][1000 genomes]
rs7124976	1.00[EUR][1000 genomes]
rs71579879	1.00[EUR][1000 genomes]
rs72559736	1.00[EUR][1000 genomes]
rs73488285	1.00[EUR][1000 genomes]
rs73488288	1.00[EUR][1000 genomes]
rs73488293	1.00[EUR][1000 genomes]
rs73488297	1.00[EUR][1000 genomes]
rs73490206	1.00[EUR][1000 genomes]
rs73490261	1.00[EUR][1000 genomes]
rs7947416	1.00[EUR][1000 genomes]
rs7950922	0.89[ASN][1000 genomes]
rs7951858	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv976458	chr11:64183936-64198230	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv976459	chr11:64183936-64208134	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64182800-64196000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:64186600-64188000	Enhancers	Placenta	Placenta
3	chr11:64187400-64187800	Enhancers	Cortex derived primary cultured neurospheres	brain

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