Variant report

Variant	rs6490272
Chromosome Location	chr12:120340146-120340147
allele	C/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	chr12:120339915..120340470-chr20:52195293..52195889,2	MCF-7	breast:
2	chr12:120340057..120342640-chr12:120728214..120730004,2	K562	blood:
3	chr12:120218749..120219300-chr12:120339736..120340392,2	MCF-7	breast:
4	chr12:120332998..120334916-chr12:120338712..120340934,2	K562	blood:
5	chr12:120331860..120334916-chr12:120338712..120341359,3	K562	blood:
6	chr12:120227935..120229478-chr12:120338440..120341071,2	K562	blood:
7	chr12:120132592..120133485-chr12:120339505..120340183,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1468330	1.00[CHB][hapmap]
rs2141835	1.00[CHB][hapmap]
rs4766955	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766956	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767854	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767857	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490273	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955579	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3379203	chr12:120317427-120345444	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120339800-120340200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:120339800-120340200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr12:120339800-120340200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:120339800-120340200	Enhancers	Brain Anterior Caudate	brain
5	chr12:120339800-120340400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:120339800-120340400	Enhancers	Dnd41	blood
7	chr12:120340000-120340200	Enhancers	K562	blood
8	chr12:120340000-120340400	Enhancers	A549	lung
9	chr12:120340000-120340400	Enhancers	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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