Variant report

Variant	rs17122557
Chromosome Location	chr1:62102676-62102677
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12402429	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12403404	0.92[AMR][1000 genomes]
rs12405339	0.92[AMR][1000 genomes]
rs12407018	0.92[AMR][1000 genomes]
rs12407058	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12407106	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12407152	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13375382	0.98[AFR][1000 genomes]
rs13375459	0.98[AFR][1000 genomes]
rs13375468	0.83[AFR][1000 genomes]
rs13376016	0.98[AFR][1000 genomes]
rs13376017	0.98[AFR][1000 genomes]
rs13376530	0.98[AFR][1000 genomes]
rs13376652	0.98[AFR][1000 genomes]
rs17122549	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17122551	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17122553	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2132395	0.98[AFR][1000 genomes]
rs2132396	0.98[AFR][1000 genomes]
rs36083467	0.92[AMR][1000 genomes]
rs6587936	0.80[AMR][1000 genomes]
rs72923616	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1007318	chr1:62083960-62113102	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv1831777	chr1:62086216-62119201	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv508226	chr1:62091093-62140604	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:62099400-62104800	Weak transcription	Right Atrium	heart
2	chr1:62101400-62103000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:62101800-62103000	Enhancers	HUVEC	blood vessel
4	chr1:62102000-62102800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:62102000-62102800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:62102200-62102800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:62102200-62102800	Active TSS	Adipose Nuclei	Adipose
8	chr1:62102200-62103000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:62102200-62103000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:62102200-62103000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:62102200-62103200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:62102400-62103000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:62102400-62103200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:62102600-62102800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:62102600-62102800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:62102600-62102800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:62102600-62102800	Enhancers	Stomach Mucosa	stomach
18	chr1:62102600-62102800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:62102600-62103000	Enhancers	Fetal Lung	lung
20	chr1:62102600-62106600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:62102600-62107000	Enhancers	Ovary	ovary

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