Variant report

Variant	rs2243706
Chromosome Location	chr21:18002930-18002931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP25-3	chr21:18002157-18003451	NONHSAT081261

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11910443	1.00[EUR][1000 genomes]
rs11910489	1.00[EUR][1000 genomes]
rs11911281	1.00[EUR][1000 genomes]
rs16998528	1.00[EUR][1000 genomes]
rs16998825	1.00[EUR][1000 genomes]
rs16999201	1.00[EUR][1000 genomes]
rs16999221	1.00[EUR][1000 genomes]
rs16999403	1.00[EUR][1000 genomes]
rs16999411	1.00[EUR][1000 genomes]
rs16999453	1.00[EUR][1000 genomes]
rs17000077	1.00[EUR][1000 genomes]
rs17000181	1.00[EUR][1000 genomes]
rs17000784	1.00[EUR][1000 genomes]
rs2823927	0.85[ASN][1000 genomes]
rs2823928	0.85[ASN][1000 genomes]
rs2823935	1.00[EUR][1000 genomes]
rs2896764	0.85[ASN][1000 genomes]
rs4380331	1.00[EUR][1000 genomes]
rs57784792	1.00[EUR][1000 genomes]
rs58347042	1.00[EUR][1000 genomes]
rs59937974	1.00[EUR][1000 genomes]
rs6517701	1.00[EUR][1000 genomes]
rs6517702	1.00[EUR][1000 genomes]
rs7275723	1.00[EUR][1000 genomes]
rs7277099	1.00[EUR][1000 genomes]
rs7277211	1.00[EUR][1000 genomes]
rs73367454	1.00[EUR][1000 genomes]
rs73367494	1.00[EUR][1000 genomes]
rs73369729	1.00[EUR][1000 genomes]
rs73893739	1.00[EUR][1000 genomes]
rs8127360	1.00[EUR][1000 genomes]
rs8128705	1.00[EUR][1000 genomes]
rs8128729	1.00[EUR][1000 genomes]
rs8129493	1.00[EUR][1000 genomes]
rs8129644	1.00[EUR][1000 genomes]
rs8130130	1.00[EUR][1000 genomes]
rs8131413	1.00[EUR][1000 genomes]
rs8131420	1.00[EUR][1000 genomes]
rs8132247	1.00[EUR][1000 genomes]
rs980067	0.85[ASN][1000 genomes]
rs9979924	0.83[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	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv834052	chr21:17967385-18142224	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17961200-18003800	Weak transcription	Aorta	Aorta
2	chr21:17969000-18005200	Weak transcription	Liver	Liver
3	chr21:17974000-18008800	Weak transcription	HUVEC	blood vessel
4	chr21:17978400-18006200	Weak transcription	Left Ventricle	heart
5	chr21:17979400-18006600	Weak transcription	Brain Hippocampus Middle	brain
6	chr21:17982000-18005000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:17982400-18006200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:17986200-18003000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr21:17989000-18006200	Weak transcription	Fetal Stomach	stomach
10	chr21:17990200-18005200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr21:17992200-18006200	Weak transcription	Adipose Nuclei	Adipose
12	chr21:17994200-18006200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr21:17997200-18004600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:17997200-18006200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr21:17997200-18006200	Weak transcription	Ovary	ovary
16	chr21:17997200-18006200	Weak transcription	Psoas Muscle	Psoas
17	chr21:17997400-18003800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr21:17997400-18004800	Weak transcription	Brain Germinal Matrix	brain
19	chr21:17997400-18005000	Weak transcription	Fetal Brain Female	brain
20	chr21:17997400-18006200	Weak transcription	Brain Substantia Nigra	brain
21	chr21:17997400-18006800	Weak transcription	Brain Anterior Caudate	brain
22	chr21:17997400-18006800	Weak transcription	Fetal Kidney	kidney
23	chr21:17997400-18006800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr21:17998200-18005400	Weak transcription	Fetal Brain Male	brain
25	chr21:17999400-18003600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:18001400-18006800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr21:18002800-18003000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr21:18002800-18003200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr21:18002800-18003200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr21:18002800-18003400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr21:18002800-18003400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr21:18002800-18003600	Strong transcription	Fetal Muscle Leg	muscle
33	chr21:18002800-18003800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr21:18002800-18006800	Weak transcription	Brain Cingulate Gyrus	brain

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