Variant report

Variant	rs648577
Chromosome Location	chr1:212690958-212690959
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212683483..212692182-chr1:212779770..212786326,12	K562	blood:
2	chr1:212681247..212682870-chr1:212690581..212692939,2	K562	blood:
3	chr1:212690257..212692182-chr1:212779999..212783511,3	K562	blood:
4	chr1:212690794..212693307-chr1:212697888..212699429,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12739715	1.00[ASN][1000 genomes]
rs17019266	1.00[ASN][1000 genomes]
rs17019397	1.00[ASN][1000 genomes]
rs2007776	1.00[ASN][1000 genomes]
rs2456815	1.00[ASN][1000 genomes]
rs3001261	1.00[ASN][1000 genomes]
rs35030678	1.00[ASN][1000 genomes]
rs492231	1.00[ASN][1000 genomes]
rs498564	1.00[ASN][1000 genomes]
rs56085986	1.00[ASN][1000 genomes]
rs593750	1.00[ASN][1000 genomes]
rs600959	0.88[AFR][1000 genomes]
rs615521	0.86[AFR][1000 genomes]
rs641053	1.00[ASN][1000 genomes]
rs6680374	1.00[ASN][1000 genomes]
rs71646161	1.00[ASN][1000 genomes]
rs74138553	1.00[ASN][1000 genomes]
rs74138559	1.00[ASN][1000 genomes]
rs7530106	1.00[ASN][1000 genomes]
rs7549085	1.00[ASN][1000 genomes]
rs7551910	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
7	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 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	chr1:212687800-212691800	Weak transcription	Hela-S3	cervix
2	chr1:212687800-212692000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:212688000-212691800	Weak transcription	A549	lung
4	chr1:212688000-212692200	Weak transcription	Left Ventricle	heart
5	chr1:212688400-212691800	Weak transcription	Pancreas	Pancrea
6	chr1:212688400-212692000	Weak transcription	Right Atrium	heart
7	chr1:212688400-212692200	Weak transcription	Right Ventricle	heart
8	chr1:212688600-212699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:212688800-212691800	Weak transcription	Brain Substantia Nigra	brain
10	chr1:212689000-212691800	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:212689000-212692000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:212689000-212692000	Weak transcription	Esophagus	oesophagus
13	chr1:212689000-212695400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:212689200-212693600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:212689200-212699800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:212689400-212692000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:212690000-212691000	Weak transcription	Fetal Intestine Large	intestine
18	chr1:212690200-212692000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:212690400-212692200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr1:212690600-212694000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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