Variant report

Variant	rs10774508
Chromosome Location	chr12:120070106-120070107
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	EP300	chr12:120069705-120070508	SK-N-SH_RA	brain:	n/a	n/a
2	RXRA	chr12:120070089-120070622	SK-N-SH	brain:	n/a	n/a
3	FOXA2	chr12:120070039-120070329	HepG2	liver:	n/a	n/a
4	EP300	chr12:120069780-120070502	SK-N-SH_RA	brain:	n/a	n/a
5	PBX3	chr12:120070084-120070487	SK-N-SH	brain:	n/a	n/a
6	FOXA1	chr12:120070019-120070463	HepG2	liver:	n/a	n/a
7	FOXA1	chr12:120070033-120070387	HepG2	liver:	n/a	n/a
8	FOXA1	chr12:120070029-120070457	HepG2	liver:	n/a	n/a
9	GATA3	chr12:120069997-120070625	SK-N-SH	brain:	n/a	n/a
10	FOXA2	chr12:120069787-120070573	HepG2	liver:	n/a	n/a
11	TCF12	chr12:120069993-120070600	SK-N-SH	brain:	n/a	n/a
12	RAD21	chr12:120070095-120070396	SK-N-SH_RA	brain:	n/a	n/a
13	FOXA1	chr12:120069976-120070470	HepG2	liver:	n/a	n/a
14	RCOR1	chr12:120070016-120070361	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RN7SKP197	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10774503	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10849675	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10849676	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10849680	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11064844	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11064845	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11064846	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11064847	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064849	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064850	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109855	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1109857	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12306215	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1985743	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2393522	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393523	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393524	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34500179	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490259	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7138221	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138756	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301592	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7304294	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7310148	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7310536	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7311445	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7311779	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7312321	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs739421	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs739422	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7952841	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955119	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963332	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7972445	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973772	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978755	0.83[AMR][1000 genomes];0.94[EUR][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	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120059200-120083400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:120065400-120078400	Weak transcription	Right Atrium	heart
3	chr12:120065800-120071200	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:120068600-120082200	Weak transcription	HSMMtube	muscle
5	chr12:120069000-120070400	Enhancers	Psoas Muscle	Psoas
6	chr12:120069200-120070200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr12:120069200-120070400	Genic enhancers	HSMM	muscle
8	chr12:120069200-120071000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
9	chr12:120069600-120070400	Genic enhancers	Muscle Satellite Cultured Cells	--
10	chr12:120069800-120071000	Enhancers	HepG2	liver

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