Variant report

Variant	rs73306246
Chromosome Location	chr12:49636560-49636561
allele	C/T
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

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49594725..49597535-chr12:49636172..49638217,2	K562	blood:
2	chr12:49633621..49636618-chr12:49656658..49661041,5	K562	blood:
3	chr12:49633760..49640540-chr12:49656677..49660210,10	MCF-7	breast:
4	chr12:49633045..49636694-chr12:49656188..49661041,6	K562	blood:
5	chr12:49628391..49630050-chr12:49633833..49636685,2	MCF-7	breast:
6	chr12:49632892..49634537-chr12:49636163..49637957,2	K562	blood:
7	chr12:49632513..49636593-chr12:49658328..49660482,3	MCF-7	breast:
8	chr12:49635417..49638399-chr12:49640493..49643287,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11168952	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11168953	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168954	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168955	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11542115	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310093	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17849881	0.85[EUR][1000 genomes]
rs17849882	0.85[EUR][1000 genomes]
rs28365885	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759170	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58403142	0.81[EUR][1000 genomes]
rs59965487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62636517	0.81[EUR][1000 genomes]
rs62636520	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv518041	chr12:49618043-49645240	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49629200-49653400	Weak transcription	Fetal Kidney	kidney
2	chr12:49629400-49637200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:49629400-49651000	Weak transcription	Fetal Brain Female	brain
4	chr12:49629400-49657800	Weak transcription	Fetal Stomach	stomach
5	chr12:49630600-49646800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:49634400-49637600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:49634400-49638000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:49634600-49638000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:49634800-49638200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:49635200-49638000	Weak transcription	K562	blood
11	chr12:49635400-49637600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:49635600-49637200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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