Variant report

Variant	rs7978612
Chromosome Location	chr12:119555165-119555166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:119555102-119555197	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYC	chr12:119554987-119555178	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:119555093-119555174	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119553688..119557524-chr12:119615179..119619342,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257095	TF binding region
ENSG00000152137	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11069212	1.00[CHB][hapmap]
rs4767774	1.00[YRI][hapmap]
rs57934661	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59629859	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7294852	1.00[EUR][1000 genomes]
rs7295253	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7295638	1.00[EUR][1000 genomes]
rs7302987	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7305005	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7311040	1.00[EUR][1000 genomes]
rs73211888	1.00[EUR][1000 genomes]
rs73211889	1.00[EUR][1000 genomes]
rs73211891	1.00[EUR][1000 genomes]
rs73211892	1.00[EUR][1000 genomes]
rs73211894	1.00[EUR][1000 genomes]
rs73211896	1.00[EUR][1000 genomes]
rs73213703	1.00[EUR][1000 genomes]
rs73213708	1.00[EUR][1000 genomes]
rs73213710	0.95[EUR][1000 genomes]
rs73213712	1.00[EUR][1000 genomes]
rs73213713	1.00[EUR][1000 genomes]
rs73213715	1.00[EUR][1000 genomes]
rs73213720	1.00[EUR][1000 genomes]
rs73213722	1.00[EUR][1000 genomes]
rs73213725	1.00[EUR][1000 genomes]
rs73213727	0.95[EUR][1000 genomes]
rs73213729	1.00[EUR][1000 genomes]
rs73213733	0.95[EUR][1000 genomes]
rs73213740	1.00[EUR][1000 genomes]
rs73213741	1.00[EUR][1000 genomes]
rs73213743	1.00[EUR][1000 genomes]
rs73213744	1.00[EUR][1000 genomes]
rs73213746	1.00[EUR][1000 genomes]
rs73213752	1.00[EUR][1000 genomes]
rs73213755	1.00[EUR][1000 genomes]
rs73213756	1.00[EUR][1000 genomes]
rs73213757	1.00[EUR][1000 genomes]
rs73213759	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73213760	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73213762	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73213764	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73213765	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73213767	1.00[EUR][1000 genomes]
rs73213768	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73213769	0.95[EUR][1000 genomes]

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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv455725	chr12:119532430-119558565	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv560395	chr12:119532430-119558565	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119535200-119568800	Weak transcription	Fetal Brain Male	brain
2	chr12:119541400-119555800	Weak transcription	Brain Germinal Matrix	brain
3	chr12:119547800-119557400	Weak transcription	Pancreas	Pancrea
4	chr12:119553400-119557600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr12:119553600-119567600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:119553800-119558800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:119553800-119569000	Weak transcription	Brain Angular Gyrus	brain
8	chr12:119554000-119555200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:119554000-119556400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:119554200-119557600	Strong transcription	Fetal Brain Female	brain
11	chr12:119555000-119556800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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