Variant report

Variant	rs9814419
Chromosome Location	chr3:23283095-23283096
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10451986	0.86[ASN][1000 genomes]
rs11129112	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11129114	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11916447	0.86[ASN][1000 genomes]
rs11921580	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11928344	0.93[ASN][1000 genomes]
rs12185989	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12630883	0.88[ASN][1000 genomes]
rs12632777	0.84[ASN][1000 genomes]
rs12633613	0.88[ASN][1000 genomes]
rs12636682	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1495135	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17341838	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17343818	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17403650	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2172827	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2359637	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2359638	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28370926	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2884787	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4368441	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55895449	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57055494	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57624654	0.93[ASN][1000 genomes]
rs57869672	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60407944	0.91[ASN][1000 genomes]
rs6762615	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6764047	0.90[ASN][1000 genomes]
rs6765562	0.90[ASN][1000 genomes]
rs6766166	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6771053	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6771206	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6773311	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6776770	0.86[ASN][1000 genomes]
rs6778478	0.80[ASN][1000 genomes]
rs6792462	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6797467	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6807390	0.80[ASN][1000 genomes]
rs73033545	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73033551	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7428484	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7610971	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7613733	0.91[ASN][1000 genomes]
rs7613969	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7614926	0.93[ASN][1000 genomes]
rs7617659	0.80[ASN][1000 genomes]
rs7622913	0.93[ASN][1000 genomes]
rs7632520	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7635784	0.88[ASN][1000 genomes]
rs7636536	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7638278	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7638405	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7641764	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7646505	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7649682	0.89[ASN][1000 genomes]
rs7651175	0.93[ASN][1000 genomes]
rs903518	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9820931	0.87[ASN][1000 genomes]
rs9825835	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9835256	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9839409	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9841308	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9841518	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9842014	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9844723	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9845536	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9881808	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9882514	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[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	nsv834636	chr3:23138653-23301443	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1014701	chr3:23257658-23416094	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv589947	chr3:23277838-23403943	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23274800-23298200	Weak transcription	Aorta	Aorta
2	chr3:23278600-23289600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:23280200-23291400	Weak transcription	Psoas Muscle	Psoas
4	chr3:23280400-23290600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr3:23280800-23283600	Enhancers	Brain Anterior Caudate	brain
6	chr3:23280800-23285000	Enhancers	Brain Cingulate Gyrus	brain
7	chr3:23281400-23298200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:23282000-23283200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:23282000-23290200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:23282200-23284000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:23282200-23285800	Weak transcription	Liver	Liver
12	chr3:23282200-23289000	Weak transcription	Adipose Nuclei	Adipose
13	chr3:23282200-23294600	Weak transcription	A549	lung
14	chr3:23282400-23286000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:23282600-23283200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:23282600-23283200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:23282600-23283200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:23282600-23284400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:23282800-23283200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:23282800-23283200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr3:23282800-23283200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:23282800-23283200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:23282800-23283400	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr3:23283000-23283200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr3:23283000-23283200	Enhancers	Brain Angular Gyrus	brain
26	chr3:23283000-23283600	Enhancers	Left Ventricle	heart
27	chr3:23283000-23283800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:23283000-23284000	Enhancers	Brain Substantia Nigra	brain
29	chr3:23283000-23284400	Enhancers	HMEC	breast
30	chr3:23283000-23284800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:23283000-23286800	Enhancers	Brain Hippocampus Middle	brain

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