Variant report

Variant	rs4760663
Chromosome Location	chr12:49368633-49368634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49367970..49369759-chr12:49389429..49392396,2	K562	blood:
2	chr12:49366194..49369077-chr12:49377220..49379959,3	K562	blood:
3	chr12:49352012..49353906-chr12:49367184..49368972,2	MCF-7	breast:
4	chr12:49209271..49210859-chr12:49368260..49371075,2	MCF-7	breast:
5	chr12:49348867..49353149-chr12:49362475..49369316,15	MCF-7	breast:
6	chr12:49368203..49373775-chr12:49410781..49415457,6	K562	blood:
7	chr12:49365293..49369225-chr12:49386844..49389863,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181929	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000272822	Chromatin interaction
ENSG00000257913	Chromatin interaction
ENSG00000258283	Chromatin interaction
ENSG00000134287	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1051886	0.88[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1054376	0.91[CEU][hapmap];0.84[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10747556	0.80[ASW][hapmap];0.88[CEU][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10747557	0.91[CEU][hapmap];0.85[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10747558	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10783289	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs10783293	0.82[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.84[MEX][hapmap];0.82[ASN][1000 genomes]
rs10783294	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10783295	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10783297	0.87[ASN][1000 genomes]
rs10875886	0.82[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.84[MEX][hapmap];0.81[ASN][1000 genomes]
rs10875893	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs10875894	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.88[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10875895	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10875897	0.80[ASW][hapmap];0.88[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10875898	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10875900	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10875901	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10875902	0.88[CEU][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1111662	0.82[CHB][hapmap];0.86[CHD][hapmap];0.88[ASN][1000 genomes]
rs11168779	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11168783	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11168784	0.88[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11168785	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11168790	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11168792	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11168794	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11168795	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168797	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168798	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168800	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168801	0.83[ASN][1000 genomes]
rs11168803	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11168812	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11608916	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11610459	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11610497	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11614474	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12227240	0.81[EUR][1000 genomes]
rs12228521	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12229275	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12423542	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12579249	0.82[ASN][1000 genomes]
rs1318692	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1690182	0.88[ASN][1000 genomes]
rs1818996	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1830192	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2030900	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2070940	0.88[ASN][1000 genomes]
rs2073480	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2131713	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2272311	0.80[ASW][hapmap];0.88[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2272312	0.82[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2293449	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs2368701	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2453063	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2463175	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2641450	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2694839	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2694840	0.87[ASN][1000 genomes]
rs3741627	0.88[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3759146	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3782353	0.88[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3809147	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3825182	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3825184	0.82[CHB][hapmap];0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs4018510	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4237854	0.82[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4433614	0.82[CHB][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4526804	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4760600	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4760661	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4760662	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4760664	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4760665	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4760666	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4760667	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4760668	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58023472	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59087236	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61941142	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61942166	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61942167	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61942169	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61942207	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6580696	0.82[CHB][hapmap];0.86[CHD][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7297958	0.81[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.84[MEX][hapmap];0.82[ASN][1000 genomes]
rs7298330	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7304942	0.82[ASN][1000 genomes]
rs7313988	0.88[ASN][1000 genomes]
rs7963018	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7963160	0.89[ASN][1000 genomes]
rs7976473	0.85[ASN][1000 genomes]
rs833820	0.84[CHD][hapmap];0.87[ASN][1000 genomes]
rs833821	0.87[ASN][1000 genomes]
rs833822	0.86[CHD][hapmap];0.88[ASN][1000 genomes]
rs833827	0.88[ASN][1000 genomes]
rs833828	0.87[ASN][1000 genomes]
rs833839	0.95[ASN][1000 genomes]
rs833840	0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap];0.95[ASN][1000 genomes]
rs833841	0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs833842	0.94[ASN][1000 genomes]
rs833843	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[ASN][1000 genomes]
rs961320	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9645813	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9783452	0.80[ASW][hapmap];0.88[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9783477	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9788029	0.82[ASN][1000 genomes]
rs9795742	0.80[ASN][1000 genomes]
rs9796008	0.84[EUR][1000 genomes];0.82[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	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4760663	FKBP11	cis	cerebellum	SCAN
rs4760663	C12orf54	cis	parietal	SCAN
rs4760663	DDX23	cis	parietal	SCAN
rs4760663	FKBP11	cis	parietal	SCAN
rs4760663	ADCY6	cis	parietal	SCAN
rs4760663	CCDC65	cis	Esophagus Muscularis	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49366000-49371000	Weak transcription	Pancreas	Pancrea
2	chr12:49367600-49371200	Weak transcription	Spleen	Spleen
3	chr12:49367800-49371800	Weak transcription	Right Atrium	heart
4	chr12:49368000-49368800	Enhancers	K562	blood
5	chr12:49368200-49368800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:49368200-49368800	Bivalent Enhancer	Osteobl	bone
7	chr12:49368600-49371400	Weak transcription	Placenta Amnion	Placenta Amnion

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