Variant report

Variant	rs12408432
Chromosome Location	chr1:170499706-170499707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:170499492-170504188	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:170499618-170503920	IMR90	lung:	n/a	n/a
3	POLR2A	chr1:170499114-170500368	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169862596..169865250-chr1:170499667..170504019,5	K562	blood:
2	chr1:170499494..170504219-chr1:170507198..170509728,4	K562	blood:
3	chr1:170498743..170500327-chr1:170518394..170520763,2	K562	blood:
4	chr1:170499494..170507345-chr1:170507805..170517333,18	K562	blood:
5	chr1:170499484..170505100-chr1:170505427..170511134,13	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10919435	0.80[EUR][1000 genomes]
rs12038857	0.80[EUR][1000 genomes]
rs12563881	0.80[EUR][1000 genomes]
rs12565083	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16863397	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16863416	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1928707	0.80[EUR][1000 genomes]
rs56318720	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6661527	0.80[EUR][1000 genomes]
rs6680284	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72707648	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72709753	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9787312	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170487200-170500200	Weak transcription	Right Ventricle	heart
2	chr1:170492000-170500000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:170498200-170500000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:170498200-170500200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:170498600-170500600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:170499400-170499800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:170499400-170500000	Enhancers	Dnd41	blood
8	chr1:170499600-170499800	Enhancers	NHDF-Ad	bronchial
9	chr1:170499600-170500000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:170499600-170500000	Enhancers	Colon Smooth Muscle	Colon
11	chr1:170499600-170500000	Enhancers	GM12878-XiMat	blood
12	chr1:170499600-170500200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:170499600-170500200	Flanking Active TSS	Osteobl	bone
14	chr1:170499600-170501800	Active TSS	Brain Anterior Caudate	brain
15	chr1:170499600-170502800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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