Variant report

Variant	rs4148999
Chromosome Location	chr12:21450250-21450251
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21449448..21450348-chr12:21590238..21590905,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121350	Chromatin interaction

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10431251	0.94[ASN][1000 genomes]
rs10459074	0.94[ASN][1000 genomes]
rs10459075	0.94[ASN][1000 genomes]
rs10743411	0.93[ASN][1000 genomes]
rs10743412	0.93[ASN][1000 genomes]
rs10770795	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10770796	0.95[ASN][1000 genomes]
rs10770797	0.94[ASN][1000 genomes]
rs10841777	0.94[ASN][1000 genomes]
rs10841778	0.92[ASN][1000 genomes]
rs10841779	0.94[ASN][1000 genomes]
rs10841780	0.94[ASN][1000 genomes]
rs10841781	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10841782	0.92[ASN][1000 genomes]
rs10841786	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10841787	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10841790	0.92[ASN][1000 genomes]
rs10841791	0.94[ASN][1000 genomes]
rs10841794	0.94[ASN][1000 genomes]
rs11045922	0.93[ASN][1000 genomes]
rs11045923	0.92[ASN][1000 genomes]
rs11045924	0.95[ASN][1000 genomes]
rs11045925	0.95[ASN][1000 genomes]
rs11045929	0.94[ASN][1000 genomes]
rs11045941	0.95[ASN][1000 genomes]
rs11045944	0.98[ASN][1000 genomes]
rs11045948	0.99[ASN][1000 genomes]
rs11045954	0.98[ASN][1000 genomes]
rs11045955	0.99[ASN][1000 genomes]
rs11045962	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045965	0.92[ASN][1000 genomes]
rs11045966	0.89[ASN][1000 genomes]
rs11045967	0.93[ASN][1000 genomes]
rs11045968	0.93[ASN][1000 genomes]
rs11045969	0.92[ASN][1000 genomes]
rs11045970	0.93[ASN][1000 genomes]
rs11045971	0.93[ASN][1000 genomes]
rs11045974	0.94[ASN][1000 genomes]
rs11045975	0.94[ASN][1000 genomes]
rs11045976	0.94[ASN][1000 genomes]
rs11045980	0.94[ASN][1000 genomes]
rs11533477	0.94[ASN][1000 genomes]
rs11535998	0.95[ASN][1000 genomes]
rs11536000	0.95[ASN][1000 genomes]
rs11537394	0.95[ASN][1000 genomes]
rs11561152	0.95[ASN][1000 genomes]
rs12227319	0.93[ASN][1000 genomes]
rs12228765	0.93[ASN][1000 genomes]
rs12230113	0.92[ASN][1000 genomes]
rs12230350	0.86[ASN][1000 genomes]
rs12230401	0.93[ASN][1000 genomes]
rs12231212	0.93[ASN][1000 genomes]
rs12231484	0.94[ASN][1000 genomes]
rs12231738	0.95[ASN][1000 genomes]
rs12311809	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12581287	0.93[ASN][1000 genomes]
rs12581327	0.94[ASN][1000 genomes]
rs16923597	0.93[ASN][1000 genomes]
rs2127117	0.94[ASN][1000 genomes]
rs2127118	0.95[ASN][1000 genomes]
rs2169883	0.94[ASN][1000 genomes]
rs2219791	0.93[ASN][1000 genomes]
rs2219793	0.94[ASN][1000 genomes]
rs2306226	0.94[ASN][1000 genomes]
rs2306227	0.94[ASN][1000 genomes]
rs2306229	0.91[ASN][1000 genomes]
rs2306231	0.93[ASN][1000 genomes]
rs2417971	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2417974	0.98[ASN][1000 genomes]
rs36089711	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3736080	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3736081	0.94[ASN][1000 genomes]
rs3751270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764041	0.93[ASN][1000 genomes]
rs3764042	0.94[ASN][1000 genomes]
rs3764044	0.94[ASN][1000 genomes]
rs3764045	0.95[ASN][1000 genomes]
rs3794319	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4115170	0.94[ASN][1000 genomes]
rs4140389	0.92[ASN][1000 genomes]
rs4148977	0.94[ASN][1000 genomes]
rs4148978	0.94[ASN][1000 genomes]
rs4148981	0.95[ASN][1000 genomes]
rs4148982	0.94[ASN][1000 genomes]
rs4148983	0.94[ASN][1000 genomes]
rs4148984	0.94[ASN][1000 genomes]
rs4148985	0.94[ASN][1000 genomes]
rs4148986	0.94[ASN][1000 genomes]
rs4148987	0.93[ASN][1000 genomes]
rs4148988	0.93[ASN][1000 genomes]
rs4148989	0.94[ASN][1000 genomes]
rs4148990	0.94[ASN][1000 genomes]
rs4148991	0.94[ASN][1000 genomes]
rs4148992	0.95[ASN][1000 genomes]
rs4148993	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4148994	0.99[ASN][1000 genomes]
rs4148995	0.99[ASN][1000 genomes]
rs4148996	0.99[ASN][1000 genomes]
rs4148997	0.99[ASN][1000 genomes]
rs4148998	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4149001	0.99[ASN][1000 genomes]
rs4149002	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4149003	0.98[ASN][1000 genomes]
rs4149004	0.93[ASN][1000 genomes]
rs4149005	0.93[ASN][1000 genomes]
rs4149006	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4149007	0.92[ASN][1000 genomes]
rs4149008	0.92[ASN][1000 genomes]
rs4149009	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs57899519	0.93[ASN][1000 genomes]
rs6487216	0.93[ASN][1000 genomes]
rs6487217	0.93[ASN][1000 genomes]
rs7296472	0.94[ASN][1000 genomes]
rs7300346	0.94[ASN][1000 genomes]
rs7300463	0.94[ASN][1000 genomes]
rs7305911	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7313671	0.94[ASN][1000 genomes]
rs7315667	0.94[ASN][1000 genomes]
rs7955581	0.93[ASN][1000 genomes]
rs7957203	0.94[ASN][1000 genomes]
rs7963398	0.95[ASN][1000 genomes]
rs7967354	0.93[ASN][1000 genomes]
rs7967935	0.94[ASN][1000 genomes]
rs7968331	0.94[ASN][1000 genomes]
rs7968842	0.94[ASN][1000 genomes]
rs7977517	0.95[ASN][1000 genomes]
rs7977652	0.95[ASN][1000 genomes]
rs7978981	0.93[ASN][1000 genomes]
rs7980842	0.93[ASN][1000 genomes]
rs875234	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898883	chr12:21294293-21450917	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv898886	chr12:21354494-21450250	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv898891	chr12:21422253-21453355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv898892	chr12:21428371-21453355	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv557735	chr12:21443282-21538957	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv898893	chr12:21444883-21453355	Strong transcription Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv557736	chr12:21446936-21453466	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21411000-21460400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:21416200-21473600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:21426600-21460400	Weak transcription	Brain Anterior Caudate	brain
4	chr12:21447600-21460600	Weak transcription	Brain Substantia Nigra	brain
5	chr12:21449200-21453200	Weak transcription	Liver	Liver
6	chr12:21449600-21450800	Enhancers	Brain Angular Gyrus	brain
7	chr12:21449600-21450800	Enhancers	Brain Hippocampus Middle	brain
8	chr12:21450000-21450600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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