Variant report

Variant	rs4148993
Chromosome Location	chr12:21461106-21461107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21460619..21462356-chr12:21809182..21811472,2	K562	blood:

Variant related genes	Relation type
ENSG00000111716	Chromatin interaction

Extended variants
information (count: 141 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10431251	0.94[ASN][1000 genomes]
rs10459074	0.91[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10459075	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10743411	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10743412	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10770795	0.99[ASN][1000 genomes]
rs10770796	0.84[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.80[LWK][hapmap];0.91[MKK][hapmap];0.86[TSI][hapmap];0.90[YRI][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10770797	0.89[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];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	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs10841782	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10841784	0.85[EUR][1000 genomes]
rs10841786	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10841787	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10841789	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs10841790	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10841791	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10841794	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11045922	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11045923	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11045924	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs11045925	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs11045929	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs11045930	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs11045933	0.82[AMR][1000 genomes]
rs11045941	0.95[ASN][1000 genomes]
rs11045944	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs11045948	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs11045954	0.91[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs11045955	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs11045962	0.86[CHB][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11045965	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11045966	0.89[ASN][1000 genomes]
rs11045967	0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs11045968	0.86[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs11045969	0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs11045970	0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs11045971	0.91[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs11045974	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11045975	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11045976	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11045980	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes];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	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs12228765	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs12230113	0.92[ASN][1000 genomes]
rs12230350	0.86[ASN][1000 genomes]
rs12230401	0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs12231212	1.00[ASW][hapmap];0.91[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.93[MKK][hapmap];0.85[TSI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12231484	0.90[CHB][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs12231738	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs12307908	0.85[EUR][1000 genomes]
rs12311809	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12581287	0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs12581327	0.94[ASN][1000 genomes]
rs16923597	0.90[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2127117	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs2127118	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs2169883	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs2199687	0.85[EUR][1000 genomes]
rs2219791	0.93[ASN][1000 genomes]
rs2219793	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs2306226	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs2306227	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs2306229	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2306231	0.89[ASW][hapmap];0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2417971	0.95[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2417972	0.85[EUR][1000 genomes]
rs2417974	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs34249976	0.86[EUR][1000 genomes]
rs36089711	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3736080	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3736081	0.94[ASN][1000 genomes]
rs3751270	0.94[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3764041	0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs3764042	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3764044	0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs3764045	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs3794319	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4115170	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4140389	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4148977	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148978	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148981	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4148982	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148983	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148984	0.94[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148985	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148986	0.84[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.80[LWK][hapmap];0.91[MKK][hapmap];0.86[TSI][hapmap];0.90[YRI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148987	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4148988	0.91[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4148989	1.00[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148990	0.89[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148991	1.00[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148992	1.00[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4148994	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4148995	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4148996	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4148997	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4148998	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4148999	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4149001	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4149002	0.94[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4149003	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4149004	0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4149005	0.91[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap];0.86[YRI][hapmap];0.93[ASN][1000 genomes]
rs4149006	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4149007	0.92[ASN][1000 genomes]
rs4149008	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4149009	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57899519	0.93[ASN][1000 genomes]
rs6487216	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6487217	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7296472	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7300346	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7300463	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7305911	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7313671	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7315667	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7955581	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7957203	0.91[CEU][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7962263	0.95[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs7962919	0.86[EUR][1000 genomes]
rs7963398	0.84[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.80[LWK][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7967354	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7967935	0.90[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7968331	0.91[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.80[YRI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7968842	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7977517	0.84[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.80[LWK][hapmap];0.91[MKK][hapmap];0.86[TSI][hapmap];0.90[YRI][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7977652	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7978981	0.84[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.80[LWK][hapmap];0.91[MKK][hapmap];0.86[TSI][hapmap];0.90[YRI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7980842	0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs875234	0.92[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4148993	KIAA0528	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21416200-21473600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:21460600-21462200	Enhancers	Brain Substantia Nigra	brain
3	chr12:21461000-21462200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:21461000-21464400	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:21461000-21467000	Weak transcription	Brain Anterior Caudate	brain
6	chr12:21461000-21473800	Weak transcription	Brain Angular Gyrus	brain

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