Variant report

Variant	rs7296999
Chromosome Location	chr12:57321212-57321213
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57319135..57322195-chr12:57322954..57326796,4	K562	blood:
2	chr12:57155856..57157540-chr12:57319760..57321568,2	MCF-7	breast:
3	chr12:57117768..57120708-chr12:57319808..57322121,2	MCF-7	breast:
4	chr12:57320297..57321910-chr12:57382955..57384633,2	MCF-7	breast:
5	chr12:57315576..57318465-chr12:57319444..57323573,6	MCF-7	breast:
6	chr12:57319841..57322040-chr12:57335776..57337907,3	MCF-7	breast:
7	chr12:57319668..57321739-chr12:57328699..57331375,2	MCF-7	breast:
8	chr12:57232523..57234649-chr12:57320169..57322431,2	MCF-7	breast:
9	chr12:57319872..57321581-chr12:57347777..57350711,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506346	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10506348	0.83[GIH][hapmap];0.87[TSI][hapmap]
rs10876955	1.00[MEX][hapmap];0.90[ASN][1000 genomes]
rs10876956	1.00[MEX][hapmap];0.90[ASN][1000 genomes]
rs11172064	0.90[ASN][1000 genomes]
rs11172065	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11172066	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11172067	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172068	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61939617	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7297019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7958413	0.83[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv899107	chr12:57293436-57321212	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv438213	chr12:57319810-57324496	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57316200-57321400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:57316400-57326800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:57317400-57323400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:57317600-57323000	Weak transcription	Esophagus	oesophagus
5	chr12:57321200-57321600	Active TSS	Gastric	stomach
6	chr12:57321200-57324000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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