Variant report

Variant	rs7121775
Chromosome Location	chr11:45864323-45864324
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	CTCF	chr11:45864180-45864330	AG10803	skin:	n/a	n/a
2	KAP1	chr11:45864238-45864749	K562	blood:	n/a	n/a
3	CTCF	chr11:45864300-45864450	HPF	lung:	n/a	n/a
4	CTCF	chr11:45864158-45865368	A549	lung:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863

No.	Distal block	Cell Line	Cell type
1	chr11:45850331..45852679-chr11:45862063..45864793,2	K562	blood:
2	chr11:45823557..45830738-chr11:45863397..45877001,19	MCF-7	breast:
3	chr11:45863464..45866206-chr11:45876321..45877929,2	K562	blood:
4	chr11:45825112..45826973-chr11:45863249..45865849,2	MCF-7	breast:
5	chr11:45863403..45866148-chr11:46264573..46266399,2	MCF-7	breast:
6	chr11:45843885..45845928-chr11:45863860..45866238,2	MCF-7	breast:
7	chr11:45863033..45864634-chr11:45867875..45871830,3	MCF-7	breast:
8	chr11:45850331..45852679-chr11:45862063..45866263,3	K562	blood:

Variant related genes	Relation type
CRY2	TF binding region
ENSG00000181830	Chromatin interaction
ENSG00000121671	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10462026	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10838519	0.81[CEU][hapmap]
rs10838526	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11038668	0.90[CEU][hapmap];0.95[GIH][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs11038670	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs11038671	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs11038675	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs11038679	0.98[EUR][1000 genomes]
rs11038680	0.98[EUR][1000 genomes]
rs11038683	0.98[EUR][1000 genomes]
rs11038685	0.98[EUR][1000 genomes]
rs11038686	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038689	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11038699	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.97[ASN][1000 genomes]
rs11038700	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11038703	0.83[EUR][1000 genomes]
rs12364060	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1401417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17787106	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17787136	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[MKK][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4756026	0.89[TSI][hapmap]
rs4756030	0.95[EUR][1000 genomes]
rs4756032	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4756036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55923741	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56152508	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56330140	0.98[EUR][1000 genomes]
rs7123390	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72900638	0.92[EUR][1000 genomes]
rs72900650	0.92[EUR][1000 genomes]
rs72900652	0.92[EUR][1000 genomes]
rs72900692	0.98[EUR][1000 genomes]
rs72900694	0.98[EUR][1000 genomes]
rs72902412	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72902436	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72902439	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs877412	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7121775	MAPK8IP1	cis	multi-tissue	Pritchard
rs7121775	OR4C45	cis	cerebellum	SCAN
rs7121775	CRY2	cis	cerebellum	SCAN
rs7121775	MAPK8IP1	cis	Whole Blood	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45845800-45869000	Weak transcription	Right Atrium	heart
2	chr11:45856200-45868600	Weak transcription	Left Ventricle	heart
3	chr11:45856800-45864600	Weak transcription	K562	blood
4	chr11:45863400-45865200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:45863800-45865000	Enhancers	Liver	Liver
6	chr11:45864000-45865000	Enhancers	Pancreatic Islets	Pancreatic Islet

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