Variant report

Variant	rs4511930
Chromosome Location	chr3:51145015-51145016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10212240	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11130273	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11130274	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11715556	0.85[ASN][1000 genomes]
rs11919932	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12494165	0.92[ASN][1000 genomes]
rs12630889	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13060972	0.92[ASN][1000 genomes]
rs28470684	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28670710	0.83[AMR][1000 genomes]
rs4130474	0.83[AMR][1000 genomes]
rs4244697	0.83[AMR][1000 genomes]
rs4244699	0.87[ASN][1000 genomes]
rs4244700	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4244701	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4244702	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4244703	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4244704	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4244705	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4263323	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4267674	0.83[AMR][1000 genomes]
rs4269109	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4286453	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4289378	0.83[ASN][1000 genomes]
rs4293735	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4309762	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4309763	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4317135	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4328835	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4353834	0.92[ASN][1000 genomes]
rs4359843	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4377512	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4378999	0.83[AMR][1000 genomes]
rs4390967	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4422345	0.83[ASN][1000 genomes]
rs4438692	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4444745	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4446244	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4464493	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4465974	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4478114	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4487270	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4488874	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4491946	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4505743	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4507294	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4511931	0.92[ASN][1000 genomes]
rs4511933	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4530566	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4532165	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4541436	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4557193	0.87[ASN][1000 genomes]
rs4574329	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4582086	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4586853	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4589968	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4596182	0.87[ASN][1000 genomes]
rs4613496	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4615113	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4639007	0.92[ASN][1000 genomes]
rs4927957	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4927958	0.83[AMR][1000 genomes]
rs4927959	0.81[AMR][1000 genomes]
rs4927960	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4927964	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4927965	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4927967	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4927971	0.81[AMR][1000 genomes]
rs4927976	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4927977	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4927978	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4927979	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4927980	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4927982	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4927983	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4927984	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4927986	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6445393	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6445455	0.83[AMR][1000 genomes]
rs6445600	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6445603	0.87[ASN][1000 genomes]
rs6445717	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6445750	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6445779	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6445802	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6445843	0.92[ASN][1000 genomes]
rs6446011	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6446118	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6446167	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6446168	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6767329	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6768601	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6769957	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6772664	0.83[AMR][1000 genomes]
rs6775483	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6777719	0.83[AMR][1000 genomes]
rs6779658	0.83[AMR][1000 genomes]
rs6787773	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6793613	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6793648	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6795272	0.92[ASN][1000 genomes]
rs6797368	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6799211	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6803672	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6806090	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6808206	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6809524	0.86[EUR][1000 genomes]
rs7610901	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7611873	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7614785	0.83[ASN][1000 genomes]
rs7615291	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7629420	0.87[ASN][1000 genomes]
rs7629433	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7630616	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7630730	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7639161	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7640263	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7643781	0.87[ASN][1000 genomes]
rs7652655	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7652818	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7653451	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7653539	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9284887	0.87[ASN][1000 genomes]
rs9284888	0.87[ASN][1000 genomes]
rs9713241	0.87[ASN][1000 genomes]
rs9818841	0.85[ASN][1000 genomes]
rs9828200	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9839860	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9841339	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9850021	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9857727	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9859178	0.83[AMR][1000 genomes]
rs9860862	0.87[ASN][1000 genomes]
rs9865363	0.92[ASN][1000 genomes]
rs9867256	0.83[AMR][1000 genomes]
rs9871539	0.87[AMR][1000 genomes];0.83[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	nsv491647	chr3:50856276-51245158	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv3447639	chr3:51129523-51158383	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51121000-51145200	Weak transcription	Fetal Brain Male	brain
2	chr3:51142000-51145200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:51144000-51145400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:51144000-51145600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:51144000-51146000	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:51144200-51145800	Weak transcription	Brain Anterior Caudate	brain
7	chr3:51144200-51145800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:51144200-51147000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:51144400-51145400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:51144400-51145600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:51144400-51146000	Weak transcription	Brain Substantia Nigra	brain
12	chr3:51144400-51168000	Weak transcription	Brain Angular Gyrus	brain
13	chr3:51144600-51146000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:51144800-51145200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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