Variant report

Variant	rs17458836
Chromosome Location	chr12:40545410-40545411
allele	A/C
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	chr12:40545280-40545430	AG04450	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:40536767..40538493-chr12:40545018..40546756,2	K562	blood:
2	12:40543943-40545640..12:40703633-40711447	GM12878	blood:
3	chr12:40543659..40545848-chr12:40705219..40707677,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223914	TF binding region
ENSG00000188906	Chromatin interaction

Extended variants
information (count: 209 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:205)

rs_ID	r²[population]
rs10747955	1.00[ASN][1000 genomes]
rs10747959	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10784283	1.00[ASN][1000 genomes]
rs10878226	0.85[YRI][hapmap]
rs10878244	0.82[YRI][hapmap]
rs10878246	1.00[YRI][hapmap]
rs11175620	0.85[YRI][hapmap]
rs11175645	0.85[YRI][hapmap]
rs11175655	1.00[YRI][hapmap]
rs11175658	0.85[YRI][hapmap]
rs11175666	0.85[YRI][hapmap]
rs11564118	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564120	1.00[ASN][1000 genomes]
rs11564122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564128	1.00[JPT][hapmap]
rs11564132	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564204	1.00[JPT][hapmap]
rs11564226	1.00[ASN][1000 genomes]
rs11564274	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11564275	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368785	1.00[JPT][hapmap]
rs12368891	1.00[JPT][hapmap]
rs1497046	1.00[ASN][1000 genomes]
rs1497048	1.00[ASN][1000 genomes]
rs1566127	1.00[ASN][1000 genomes]
rs17442206	1.00[JPT][hapmap]
rs17442297	1.00[JPT][hapmap]
rs17442665	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17442735	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17442742	1.00[JPT][hapmap]
rs17442812	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17442853	1.00[YRI][hapmap]
rs17442980	1.00[JPT][hapmap]
rs17443178	1.00[JPT][hapmap]
rs17443185	1.00[JPT][hapmap]
rs17443206	1.00[JPT][hapmap]
rs17443366	1.00[JPT][hapmap]
rs17443380	1.00[JPT][hapmap]
rs17443387	1.00[JPT][hapmap]
rs17443504	1.00[JPT][hapmap]
rs17443882	1.00[JPT][hapmap]
rs17443916	1.00[JPT][hapmap]
rs17443951	1.00[JPT][hapmap]
rs17444021	1.00[JPT][hapmap]
rs17444033	1.00[JPT][hapmap]
rs17458093	1.00[JPT][hapmap]
rs17458121	1.00[JPT][hapmap]
rs17458202	1.00[JPT][hapmap]
rs17458341	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17458396	1.00[JPT][hapmap]
rs17458417	1.00[JPT][hapmap]
rs17458487	1.00[JPT][hapmap]
rs17458528	1.00[JPT][hapmap]
rs17458780	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17458974	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17461337	1.00[JPT][hapmap]
rs17465428	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17465737	1.00[JPT][hapmap]
rs17465751	1.00[JPT][hapmap]
rs17465807	1.00[JPT][hapmap]
rs17465877	1.00[JPT][hapmap]
rs17466002	1.00[JPT][hapmap]
rs17466143	1.00[JPT][hapmap]
rs17466206	1.00[JPT][hapmap]
rs17466213	1.00[JPT][hapmap]
rs17466241	1.00[JPT][hapmap]
rs17466458	1.00[JPT][hapmap]
rs17466514	1.00[JPT][hapmap]
rs17466535	1.00[JPT][hapmap]
rs17483857	1.00[JPT][hapmap]
rs17483996	1.00[JPT][hapmap]
rs17484176	1.00[JPT][hapmap]
rs17489170	1.00[JPT][hapmap]
rs17489218	1.00[JPT][hapmap]
rs17489225	1.00[JPT][hapmap]
rs17489246	1.00[JPT][hapmap]
rs17489253	1.00[JPT][hapmap]
rs17489267	1.00[JPT][hapmap]
rs17489365	1.00[JPT][hapmap]
rs17489410	1.00[JPT][hapmap]
rs17489417	1.00[JPT][hapmap]
rs17489466	1.00[JPT][hapmap]
rs17489501	1.00[JPT][hapmap]
rs17489583	1.00[JPT][hapmap]
rs17489590	1.00[JPT][hapmap]
rs17489597	1.00[JPT][hapmap]
rs17489638	1.00[JPT][hapmap]
rs17489869	1.00[JPT][hapmap]
rs17489985	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17490006	1.00[JPT][hapmap]
rs17490334	1.00[JPT][hapmap]
rs17490341	1.00[JPT][hapmap]
rs17490599	1.00[JPT][hapmap]
rs17490769	1.00[JPT][hapmap]
rs17490796	1.00[JPT][hapmap]
rs17490810	1.00[JPT][hapmap]
rs17491047	1.00[JPT][hapmap]
rs17491061	1.00[JPT][hapmap]
rs17491068	1.00[JPT][hapmap]
rs17491180	1.00[JPT][hapmap]
rs17491340	1.00[JPT][hapmap]
rs17491445	1.00[JPT][hapmap]
rs17491515	1.00[JPT][hapmap]
rs17491529	1.00[JPT][hapmap]
rs17491638	1.00[JPT][hapmap]
rs17518057	1.00[JPT][hapmap]
rs17518071	1.00[JPT][hapmap]
rs17518141	1.00[JPT][hapmap]
rs17518148	1.00[JPT][hapmap]
rs17518155	1.00[JPT][hapmap]
rs17518204	1.00[JPT][hapmap]
rs17518232	1.00[JPT][hapmap]
rs17518343	1.00[JPT][hapmap]
rs17518413	1.00[JPT][hapmap]
rs17518420	1.00[JPT][hapmap]
rs17518532	1.00[JPT][hapmap]
rs17518910	1.00[JPT][hapmap]
rs17519531	1.00[JPT][hapmap]
rs17519566	1.00[JPT][hapmap]
rs17519573	0.85[YRI][hapmap]
rs17519580	1.00[JPT][hapmap]
rs17519615	1.00[JPT][hapmap]
rs17519671	1.00[JPT][hapmap]
rs17519811	1.00[JPT][hapmap]
rs17519825	1.00[JPT][hapmap]
rs17519832	1.00[JPT][hapmap]
rs17519985	1.00[JPT][hapmap]
rs17520020	1.00[JPT][hapmap]
rs17520278	1.00[JPT][hapmap]
rs17520292	1.00[JPT][hapmap]
rs2132745	1.00[ASN][1000 genomes]
rs2132746	1.00[ASN][1000 genomes]
rs2404351	1.00[ASN][1000 genomes]
rs28365178	1.00[JPT][hapmap]
rs28365191	1.00[JPT][hapmap]
rs28365203	1.00[JPT][hapmap]
rs28365211	1.00[JPT][hapmap]
rs28365221	1.00[JPT][hapmap]
rs28365226	1.00[JPT][hapmap]
rs28365233	1.00[JPT][hapmap]
rs28365682	1.00[JPT][hapmap]
rs28365690	1.00[JPT][hapmap]
rs28370599	1.00[ASN][1000 genomes]
rs28370605	1.00[JPT][hapmap]
rs28370608	1.00[JPT][hapmap]
rs28370616	1.00[JPT][hapmap]
rs28370643	1.00[JPT][hapmap]
rs28370649	1.00[JPT][hapmap]
rs28370652	1.00[JPT][hapmap]
rs28370655	1.00[JPT][hapmap]
rs28370658	1.00[JPT][hapmap]
rs28370665	1.00[JPT][hapmap]
rs28370670	1.00[JPT][hapmap]
rs28370672	1.00[JPT][hapmap]
rs28370673	1.00[JPT][hapmap]
rs28370682	1.00[JPT][hapmap]
rs28370690	1.00[JPT][hapmap]
rs28370692	1.00[JPT][hapmap]
rs28370696	1.00[JPT][hapmap]
rs28370700	1.00[JPT][hapmap]
rs28370707	1.00[JPT][hapmap]
rs28370718	1.00[JPT][hapmap]
rs28370731	1.00[JPT][hapmap]
rs28370737	1.00[JPT][hapmap]
rs28370744	1.00[JPT][hapmap]
rs28370750	1.00[JPT][hapmap]
rs28370751	1.00[JPT][hapmap]
rs28370755	1.00[JPT][hapmap]
rs28370764	1.00[JPT][hapmap]
rs28370765	1.00[JPT][hapmap]
rs28370767	1.00[JPT][hapmap]
rs28370768	1.00[JPT][hapmap]
rs28370771	1.00[JPT][hapmap]
rs28370772	1.00[JPT][hapmap]
rs28370776	1.00[JPT][hapmap]
rs28370779	1.00[JPT][hapmap]
rs28370787	1.00[JPT][hapmap]
rs28370793	1.00[JPT][hapmap]
rs28370796	1.00[JPT][hapmap]
rs28370800	1.00[JPT][hapmap]
rs28370806	1.00[JPT][hapmap]
rs28370808	1.00[JPT][hapmap]
rs28370813	1.00[JPT][hapmap]
rs28370818	1.00[JPT][hapmap]
rs28370823	1.00[JPT][hapmap]
rs28370826	1.00[JPT][hapmap]
rs2952711	0.86[EUR][1000 genomes]
rs34714539	1.00[ASN][1000 genomes]
rs35985096	1.00[ASN][1000 genomes]
rs4768196	1.00[ASN][1000 genomes]
rs4768202	1.00[ASN][1000 genomes]
rs6581438	1.00[ASN][1000 genomes]
rs6581439	1.00[ASN][1000 genomes]
rs7135678	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138075	1.00[ASN][1000 genomes]
rs7138078	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs71449744	1.00[ASN][1000 genomes]
rs7294619	0.85[YRI][hapmap]
rs7300161	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305994	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74088117	1.00[ASN][1000 genomes]
rs7959787	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937385	1.00[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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899031	chr12:40520684-40580440	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40541400-40546600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr12:40541800-40546600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr12:40543800-40547200	Weak transcription	HMEC	breast
4	chr12:40544000-40547400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:40544200-40546600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:40544200-40546600	Weak transcription	A549	lung
7	chr12:40544200-40547000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:40544200-40547200	Weak transcription	NHEK	skin

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