Variant report

Variant	rs59665018
Chromosome Location	chr12:76083667-76083668
allele	A/C
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	chr12:76083645-76084850	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76077618..76079261-chr12:76083300..76084983,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251893	TF binding region
ENSG00000258245	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17115491	0.90[AFR][1000 genomes]
rs58434374	1.00[AMR][1000 genomes]
rs61279777	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6582295	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363650	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363654	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363656	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363659	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363669	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363672	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363673	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363680	0.80[AFR][1000 genomes]
rs73363684	1.00[AMR][1000 genomes]
rs73363685	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363692	1.00[AMR][1000 genomes]
rs73363694	1.00[AMR][1000 genomes]
rs73363698	1.00[AMR][1000 genomes]
rs73363701	1.00[AMR][1000 genomes]
rs73365803	1.00[AMR][1000 genomes]
rs74109621	1.00[AMR][1000 genomes]
rs74109628	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112478	0.93[AFR][1000 genomes];1.00[AMR][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	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv899314	chr12:76079814-76110751	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76076200-76098400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:76079000-76093600	Weak transcription	Psoas Muscle	Psoas
3	chr12:76079200-76083800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:76079200-76084200	Weak transcription	K562	blood
5	chr12:76079400-76083800	Weak transcription	HSMM	muscle
6	chr12:76079400-76084000	Weak transcription	Fetal Stomach	stomach
7	chr12:76079400-76099800	Weak transcription	Right Atrium	heart
8	chr12:76079600-76083800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:76079600-76083800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:76079800-76083800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:76079800-76083800	Weak transcription	NH-A	brain
12	chr12:76079800-76083800	Weak transcription	Osteobl	bone
13	chr12:76080000-76084200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:76081200-76083800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:76081800-76083800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:76083000-76084400	Enhancers	NHDF-Ad	bronchial
17	chr12:76083200-76084400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:76083200-76084400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:76083200-76084400	Enhancers	NHLF	lung
20	chr12:76083200-76084600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:76083200-76085000	Enhancers	HMEC	breast
22	chr12:76083600-76085000	Enhancers	NHEK	skin
23	chr12:76083600-76087400	Enhancers	Muscle Satellite Cultured Cells	--

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