Variant report

Variant	rs1021278
Chromosome Location	chr2:186924364-186924365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10931220	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12618557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2370480	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55680914	1.00[AMR][1000 genomes]
rs55745344	1.00[AMR][1000 genomes]
rs57329872	1.00[AMR][1000 genomes]
rs57816984	1.00[AMR][1000 genomes]
rs58477403	1.00[AMR][1000 genomes]
rs59528603	1.00[AMR][1000 genomes]
rs59701674	1.00[AMR][1000 genomes]
rs7355315	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978958	1.00[AMR][1000 genomes]
rs73979075	1.00[AMR][1000 genomes]
rs73979076	1.00[AMR][1000 genomes]
rs73979110	1.00[AMR][1000 genomes]
rs73979115	1.00[AMR][1000 genomes]
rs73979116	1.00[AMR][1000 genomes]
rs73979269	1.00[AMR][1000 genomes]
rs73980876	1.00[AMR][1000 genomes]
rs73980888	1.00[AMR][1000 genomes]
rs73980898	1.00[AMR][1000 genomes]
rs7564153	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7571468	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs901614	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875545	chr2:186566024-187280164	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv817325	chr2:186625679-187200841	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv868949	chr2:186657142-187327560	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1002243	chr2:186692815-187150225	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv536077	chr2:186692815-187150225	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv932296	chr2:186737443-187265790	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv875547	chr2:186798249-187014815	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv875548	chr2:186798249-187164657	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv875550	chr2:186807268-186965143	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv875551	chr2:186844579-186965143	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1007635	chr2:186847770-186947882	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1001737	chr2:186847770-186953324	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1007803	chr2:186847770-186959288	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv431846	chr2:186848494-186945624	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv431835	chr2:186848494-186960817	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv1005089	chr2:186848664-186953324	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv584026	chr2:186851224-186944663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv584027	chr2:186851224-186954427	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv584028	chr2:186851224-186965143	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv584029	chr2:186851224-186971595	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv584030	chr2:186915437-187001076	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186907400-186933200	Weak transcription	Pancreas	Pancrea
2	chr2:186911400-186933000	Weak transcription	Psoas Muscle	Psoas
3	chr2:186920000-186925200	Weak transcription	HSMM	muscle
4	chr2:186923400-186924400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr2:186923600-186924400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:186923600-186924400	Enhancers	Fetal Heart	heart
7	chr2:186923600-186924800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr2:186923600-186925000	Enhancers	Brain Anterior Caudate	brain
9	chr2:186923600-186926600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:186923800-186924800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:186923800-186926000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:186924000-186924400	Enhancers	Fetal Kidney	kidney
13	chr2:186924000-186924400	Enhancers	HSMMtube	muscle
14	chr2:186924200-186924400	Enhancers	Brain Hippocampus Middle	brain
15	chr2:186924200-186924400	Enhancers	Brain Substantia Nigra	brain
16	chr2:186924200-186924600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:186924200-186925000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:186924200-186925400	Weak transcription	Brain Angular Gyrus	brain
19	chr2:186924200-186925600	Weak transcription	Fetal Lung	lung
20	chr2:186924200-186925800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:186924200-186925800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:186924200-186926200	Weak transcription	Adipose Nuclei	Adipose
23	chr2:186924200-186926800	Weak transcription	Ovary	ovary
24	chr2:186924200-186933000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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