Variant report

Variant	rs73270770
Chromosome Location	chr20:13629528-13629529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1024208	1.00[ASN][1000 genomes]
rs1028849	1.00[ASN][1000 genomes]
rs12479594	1.00[ASN][1000 genomes]
rs12479746	1.00[ASN][1000 genomes]
rs12480131	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480277	1.00[ASN][1000 genomes]
rs12480426	1.00[ASN][1000 genomes]
rs12481107	1.00[ASN][1000 genomes]
rs12481490	1.00[EUR][1000 genomes]
rs13433337	1.00[AMR][1000 genomes]
rs2180570	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033774	1.00[AMR][1000 genomes]
rs6033782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033784	1.00[AMR][1000 genomes]
rs6033791	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6033797	1.00[AMR][1000 genomes]
rs6033800	1.00[AMR][1000 genomes]
rs6033802	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033806	1.00[EUR][1000 genomes]
rs6042142	1.00[ASN][1000 genomes]
rs6042143	1.00[ASN][1000 genomes]
rs6042152	1.00[ASN][1000 genomes]
rs6042154	1.00[ASN][1000 genomes]
rs6042234	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042241	1.00[ASN][1000 genomes]
rs6042242	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042246	1.00[AMR][1000 genomes]
rs6042247	1.00[AMR][1000 genomes]
rs6042248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042252	1.00[AMR][1000 genomes]
rs6042265	1.00[AMR][1000 genomes]
rs6042267	1.00[AMR][1000 genomes]
rs6042274	1.00[ASN][1000 genomes]
rs6042275	1.00[ASN][1000 genomes]
rs6042284	1.00[ASN][1000 genomes]
rs6042286	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6042298	1.00[AMR][1000 genomes]
rs6042303	1.00[AMR][1000 genomes]
rs6042307	1.00[EUR][1000 genomes]
rs60686384	1.00[ASN][1000 genomes]
rs6079117	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105111	1.00[ASN][1000 genomes]
rs6105145	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6105146	1.00[ASN][1000 genomes]
rs6109904	1.00[ASN][1000 genomes]
rs6109972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109973	1.00[AMR][1000 genomes]
rs6109985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109996	0.84[AFR][1000 genomes]
rs61518689	1.00[ASN][1000 genomes]
rs7274078	1.00[ASN][1000 genomes]
rs73254604	1.00[ASN][1000 genomes]
rs73899330	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1061323	chr20:13551004-13746346	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv531478	chr20:13580524-13814797	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13620200-13634800	Weak transcription	Right Atrium	heart
2	chr20:13625800-13631400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:13628800-13629800	Enhancers	Fetal Brain Male	brain
4	chr20:13628800-13631600	Enhancers	Fetal Muscle Leg	muscle
5	chr20:13629000-13630600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr20:13629000-13630800	Enhancers	Fetal Muscle Trunk	muscle
7	chr20:13629000-13631000	Enhancers	Fetal Stomach	stomach
8	chr20:13629200-13629600	Enhancers	Fetal Brain Female	brain
9	chr20:13629200-13629600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr20:13629200-13629800	Enhancers	Colon Smooth Muscle	Colon
11	chr20:13629200-13629800	Enhancers	Spleen	Spleen
12	chr20:13629200-13630200	Enhancers	Stomach Smooth Muscle	stomach
13	chr20:13629200-13630400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr20:13629200-13631600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr20:13629200-13631600	Enhancers	Fetal Lung	lung
16	chr20:13629400-13630000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr20:13629400-13630000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr20:13629400-13630000	Weak transcription	Ovary	ovary
19	chr20:13629400-13630400	Enhancers	Dnd41	blood
20	chr20:13629400-13631000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr20:13629400-13631600	Enhancers	HUES48 Cell Line	embryonic stem cell

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