Variant report

Variant	rs4951616
Chromosome Location	chr1:212753932-212753933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212751031..212755114-chr1:212792767..212796385,4	K562	blood:
2	chr1:212752659..212754455-chr1:212760366..212761960,2	K562	blood:
3	chr1:212752372..212753937-chr1:212778628..212781608,2	K562	blood:
4	chr1:212752803..212755177-chr1:212757732..212760113,2	MCF-7	breast:
5	chr1:212753849..212756261-chr1:212781790..212784090,3	K562	blood:
6	chr1:212752565..212754879-chr1:212767873..212770095,2	K562	blood:
7	chr1:212753849..212755791-chr1:212782231..212784090,2	K562	blood:
8	chr1:212751384..212755083-chr1:212773324..212775569,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10157292	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10863980	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10863981	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1105899	0.90[ASN][1000 genomes]
rs11119974	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119975	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119977	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12037048	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12038766	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12045591	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12046640	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12729140	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3806460	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4951613	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4951618	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59261419	0.81[AFR][1000 genomes]
rs60521851	0.83[AFR][1000 genomes]
rs6671422	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6674072	0.83[ASN][1000 genomes]
rs71646170	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72756337	0.81[AFR][1000 genomes]
rs72756339	0.81[AFR][1000 genomes]
rs72756341	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212752000-212754400	Enhancers	Placenta	Placenta
2	chr1:212753200-212755600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:212753400-212754000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:212753400-212754000	Active TSS	Brain Substantia Nigra	brain
5	chr1:212753400-212754000	Enhancers	GM12878-XiMat	blood
6	chr1:212753600-212754000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:212753600-212754000	Enhancers	Colonic Mucosa	Colon
8	chr1:212753600-212754000	Flanking Active TSS	Hela-S3	cervix
9	chr1:212753600-212754000	Enhancers	NHLF	lung
10	chr1:212753600-212754400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:212753800-212754000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:212753800-212754000	Enhancers	Duodenum Mucosa	Duodenum
13	chr1:212753800-212754000	Enhancers	Spleen	Spleen
14	chr1:212753800-212754000	Enhancers	NHDF-Ad	bronchial
15	chr1:212753800-212756800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:212753800-212757000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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