Variant report

Variant	rs1002231
Chromosome Location	chr12:118109552-118109553
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118109172..118110250-chr12:118274729..118275857,10	MCF-7	breast:
2	chr12:117804547..117805466-chr12:118109346..118110098,4	K562	blood:
3	chr12:117804426..117805543-chr12:118109286..118110102,10	MCF-7	breast:
4	chr12:118105795..118108176-chr12:118109187..118111879,2	K562	blood:
5	chr12:117804928..117805838-chr12:118109216..118110107,2	MCF-7	breast:
6	chr12:118109464..118110118-chr12:118287563..118288394,2	MCF-7	breast:
7	chr12:117650101..117650628-chr12:118109086..118109729,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10850884	0.92[EUR][1000 genomes]
rs11068616	0.93[EUR][1000 genomes]
rs11068617	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11068623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068625	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12305827	0.81[ASN][1000 genomes]
rs12308097	0.94[EUR][1000 genomes]
rs12309599	0.94[EUR][1000 genomes]
rs488999	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs492479	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs597780	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs598670	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs657724	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs73211999	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832527	chr12:117974007-118110244	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118090000-118109800	Weak transcription	Pancreas	Pancrea
2	chr12:118101800-118109600	Weak transcription	HUVEC	blood vessel
3	chr12:118105400-118118800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:118109200-118109600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr12:118109200-118110000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:118109200-118110200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:118109400-118110200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:118109400-118110200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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Input of quick search could be:

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

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