Variant report

Variant	rs4944468
Chromosome Location	chr11:83885782-83885783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:83882213..83884699-chr11:83885574..83887254,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1014066	0.95[CHB][hapmap];0.87[CHD][hapmap]
rs10501555	0.95[CHB][hapmap];0.93[CHD][hapmap]
rs10732891	0.92[ASN][1000 genomes]
rs10736760	0.90[CHB][hapmap];0.87[CHD][hapmap];0.81[ASN][1000 genomes]
rs10736762	0.93[ASN][1000 genomes]
rs10736763	0.82[ASN][1000 genomes]
rs10751104	0.86[CHB][hapmap]
rs10751105	0.95[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap]
rs10751106	0.90[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap]
rs10751107	0.81[ASN][1000 genomes]
rs10751109	0.81[CHB][hapmap]
rs10792713	0.84[CHD][hapmap]
rs10792717	0.81[CHD][hapmap];0.83[MEX][hapmap]
rs10792719	0.90[CHB][hapmap]
rs10792722	0.90[CHB][hapmap];0.87[CHD][hapmap]
rs10792723	0.90[CHB][hapmap]
rs10792725	0.90[CHB][hapmap];0.87[CHD][hapmap];0.81[ASN][1000 genomes]
rs10792726	0.81[ASN][1000 genomes]
rs10792727	0.95[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs10792728	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10792729	0.97[ASN][1000 genomes]
rs10792731	0.90[CHB][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap]
rs10898199	0.81[CHD][hapmap]
rs10898202	0.81[CHB][hapmap]
rs10898204	0.90[CHB][hapmap]
rs10898205	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs10898206	0.86[CHB][hapmap]
rs10898207	0.86[CHB][hapmap];0.87[CHD][hapmap]
rs11233930	0.89[ASN][1000 genomes]
rs12272414	0.93[ASN][1000 genomes]
rs12363188	0.81[CHB][hapmap]
rs1349820	0.90[CHB][hapmap];0.88[GIH][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap];0.87[ASN][1000 genomes]
rs1377745	0.95[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs1377746	0.95[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs1377747	0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs1377748	0.90[CHB][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs1399617	0.81[CHB][hapmap]
rs1454016	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1454017	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1454018	0.84[ASN][1000 genomes]
rs1454019	0.95[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs1454020	0.97[ASN][1000 genomes]
rs1454022	0.89[ASN][1000 genomes]
rs1454026	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs1454027	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs1551334	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1551335	0.82[ASN][1000 genomes]
rs1573572	0.95[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];0.90[ASN][1000 genomes]
rs1573574	0.81[CHD][hapmap];0.83[MEX][hapmap]
rs1620817	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs1670679	0.81[ASN][1000 genomes]
rs1793037	0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs1793038	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1793039	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1813461	0.82[ASN][1000 genomes]
rs1823844	0.90[ASN][1000 genomes]
rs1869472	0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs1894169	0.86[CHB][hapmap]
rs1894170	0.86[CHB][hapmap]
rs1894172	0.81[CHD][hapmap]
rs1945799	0.81[CHB][hapmap];0.87[CHD][hapmap]
rs1945800	0.84[CHD][hapmap];0.83[MEX][hapmap]
rs1945807	0.81[CHB][hapmap]
rs1945808	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs1945820	0.95[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.88[MEX][hapmap]
rs1945822	0.95[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap]
rs1945823	0.90[CHB][hapmap]
rs1945824	0.90[CHB][hapmap]
rs1945825	0.90[CHB][hapmap]
rs1945826	0.95[CHB][hapmap];0.90[CHD][hapmap]
rs1945827	0.94[CHB][hapmap]
rs1945828	0.86[CHB][hapmap];0.90[CHD][hapmap]
rs1945832	0.84[CHD][hapmap]
rs2000961	0.95[CHB][hapmap];0.90[CHD][hapmap]
rs2032401	0.81[CHD][hapmap];0.88[MEX][hapmap]
rs2051472	0.84[CHD][hapmap];0.83[MEX][hapmap]
rs2105806	0.90[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap]
rs2123818	0.85[ASN][1000 genomes]
rs2156848	0.90[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs2168007	0.85[ASN][1000 genomes]
rs2213112	0.85[ASN][1000 genomes]
rs2213113	0.86[ASN][1000 genomes]
rs2298830	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs4454750	0.94[ASN][1000 genomes]
rs4547116	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[ASN][1000 genomes]
rs4943888	0.82[ASN][1000 genomes]
rs4944463	0.81[CHD][hapmap]
rs4944471	0.90[CHB][hapmap];0.87[CHD][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs4944472	0.90[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap];0.82[ASN][1000 genomes]
rs4944473	0.82[ASN][1000 genomes]
rs6592163	0.84[CHD][hapmap];0.83[MEX][hapmap]
rs6592164	0.90[CHB][hapmap]
rs6592165	0.90[CHB][hapmap];0.87[CHD][hapmap]
rs7104249	0.89[CHB][hapmap]
rs7108582	0.86[CHB][hapmap]
rs7109671	0.84[CHD][hapmap];0.83[MEX][hapmap]
rs7114261	0.90[CHB][hapmap]
rs7123516	0.90[CHB][hapmap]
rs7123584	0.90[CHB][hapmap]
rs756197	0.95[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap]
rs7925643	0.90[CHB][hapmap]
rs7927039	0.86[CHB][hapmap];0.81[GIH][hapmap]
rs7935399	0.81[CHB][hapmap]
rs7937260	0.88[ASN][1000 genomes]
rs7941004	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs7943267	0.95[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs7948263	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs7951073	0.81[ASN][1000 genomes]
rs872510	0.95[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap]
rs872511	0.95[CHB][hapmap]
rs872512	0.95[CHB][hapmap]
rs884873	0.94[CHB][hapmap]
rs970226	0.90[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs9787893	0.81[ASN][1000 genomes]
rs988322	0.90[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][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	nsv1039924	chr11:83662904-83993497	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv541102	chr11:83662904-83993497	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv898029	chr11:83717887-83939591	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 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	chr11:83884200-83887000	Enhancers	Brain Substantia Nigra	brain
2	chr11:83884800-83887600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:83885000-83886200	Weak transcription	Brain Angular Gyrus	brain
4	chr11:83885000-83886200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:83885000-83887600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:83885000-83887800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:83885000-83889000	Weak transcription	Brain Anterior Caudate	brain
8	chr11:83885200-83886200	Weak transcription	Brain Hippocampus Middle	brain

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