Variant report

Variant	rs61306473
Chromosome Location	chr20:1702950-1702951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11904920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11905288	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11905339	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11905607	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11906144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11906175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11906199	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11906607	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11907220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11907659	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11907976	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11908091	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56911787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57731168	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58128200	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576959	1.00[AMR][1000 genomes]
rs73576977	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580905	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580908	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580910	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580913	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580914	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580917	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580920	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580924	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580928	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580933	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580936	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580937	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580938	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580942	0.89[AFR][1000 genomes]
rs73580946	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580953	1.00[AFR][1000 genomes]
rs73580955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8116970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv585206	chr20:1386473-1714362	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv912596	chr20:1486637-1877150	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1057036	chr20:1493425-1869281	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv912597	chr20:1500506-1877150	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv833894	chr20:1519433-1753366	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv531473	chr20:1532476-1864506	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1063429	chr20:1679052-1706969	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1793674	chr20:1685595-1704114	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv962538	chr20:1702183-1716952	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1698600-1703400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:1698600-1703400	Enhancers	NHEK	skin
3	chr20:1698600-1703600	Enhancers	HMEC	breast
4	chr20:1699800-1703200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr20:1700200-1703400	Enhancers	Primary B cells from peripheral blood	blood
6	chr20:1700600-1703000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr20:1701400-1703600	Enhancers	Primary B cells from cord blood	blood
8	chr20:1701400-1714600	Weak transcription	Brain Hippocampus Middle	brain
9	chr20:1701800-1703200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr20:1701800-1703800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr20:1701800-1703800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr20:1701800-1703800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:1701800-1704000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr20:1701800-1704000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr20:1702200-1703200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr20:1702400-1703200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr20:1702400-1703600	Flanking Active TSS	GM12878-XiMat	blood
18	chr20:1702600-1703000	Enhancers	Primary T cells from cord blood	blood
19	chr20:1702600-1703000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:1702600-1703000	Strong transcription	Brain Anterior Caudate	brain
21	chr20:1702600-1707000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr20:1702800-1703200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr20:1702800-1703200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr20:1702800-1703200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr20:1702800-1703200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr20:1702800-1703400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr20:1702800-1703400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr20:1702800-1703400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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