Variant report

Variant	rs73580967
Chromosome Location	chr20:1703425-1703426
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IKZF1	chr20:1702379-1703558	GM12878	blood:	n/a	n/a
2	MAX	chr20:1702669-1703650	H1-hESC	embryonic stem cell:	n/a	chr20:1703512-1703522 chr20:1703466-1703476
3	RAD21	chr20:1703377-1703621	SK-N-SH_RA	brain:	n/a	n/a
4	MTA3	chr20:1702135-1703454	GM12878	blood:	n/a	n/a
5	USF1	chr20:1703410-1703577	K562	blood:	n/a	n/a
6	FOXM1	chr20:1702651-1703468	GM12878	blood:	n/a	n/a
7	ESRRA	chr20:1701550-1703959	GM12878	blood:	n/a	n/a
8	CTCF	chr20:1703420-1703570	GM12874	blood:	n/a	n/a
9	USF1	chr20:1702836-1703742	H1-hESC	embryonic stem cell:	n/a	n/a
10	NFIC	chr20:1702079-1703620	GM12878	blood:	n/a	n/a
11	RAD21	chr20:1703229-1703682	H1-hESC	embryonic stem cell:	n/a	n/a
12	RUNX3	chr20:1702219-1703624	GM12878	blood:	n/a	n/a
13	GTF2F1	chr20:1703093-1703480	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUND	chr20:1702917-1703526	H1-hESC	embryonic stem cell:	n/a	n/a
15	SP1	chr20:1702772-1703435	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr20:1703328-1703650	NB4	blood:	n/a	chr20:1703512-1703522 chr20:1703466-1703476
17	USF1	chr20:1703317-1703649	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr20:1702733-1703689	H1-hESC	embryonic stem cell:	n/a	chr20:1703512-1703522 chr20:1703466-1703476
19	PML	chr20:1702067-1703585	GM12878	blood:	n/a	n/a
20	MYC	chr20:1702750-1703636	H1-hESC	embryonic stem cell:	n/a	chr20:1703512-1703522 chr20:1703466-1703476
21	RAD21	chr20:1703020-1703659	H1-hESC	embryonic stem cell:	n/a	n/a
22	SPI1	chr20:1702295-1703478	GM12878	blood:	n/a	n/a
23	CEBPB	chr20:1702370-1703441	GM12878	blood:	n/a	chr20:1702735-1702746
24	CTCF	chr20:1703399-1703562	HepG2	liver:	n/a	n/a
25	RAD21	chr20:1703265-1703635	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr20:1703354-1703653	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000234282	TF binding region

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]
rs61306473	1.00[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]
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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1698600-1703600	Enhancers	HMEC	breast
2	chr20:1701400-1703600	Enhancers	Primary B cells from cord blood	blood
3	chr20:1701400-1714600	Weak transcription	Brain Hippocampus Middle	brain
4	chr20:1701800-1703800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr20:1701800-1703800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr20:1701800-1703800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr20:1701800-1704000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr20:1701800-1704000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr20:1702400-1703600	Flanking Active TSS	GM12878-XiMat	blood
10	chr20:1702600-1707000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr20:1703000-1704000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr20:1703000-1704600	Weak transcription	Brain Anterior Caudate	brain
13	chr20:1703200-1703600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr20:1703200-1703600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr20:1703200-1704400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr20:1703200-1704800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr20:1703400-1703600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr20:1703400-1703800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr20:1703400-1704000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr20:1703400-1720200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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