Variant report

Variant	rs12057864
Chromosome Location	chr1:184986206-184986207
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	CEBPB	chr1:184986149-184986856	Hela-S3	cervix:	n/a	chr1:184986640-184986651
2	JUND	chr1:184986122-184986992	HCT-116	colon:	n/a	chr1:184986587-184986598
3	CEBPB	chr1:184986138-184987104	HCT-116	colon:	n/a	chr1:184986640-184986651
4	FOSL1	chr1:184986137-184987159	HCT-116	colon:	n/a	n/a
5	JUND	chr1:184986165-184987328	SK-N-SH	brain:	n/a	chr1:184986587-184986598
6	JUN	chr1:184985702-184987064	K562	blood:	n/a	n/a
7	JUND	chr1:184986072-184986992	HCT-116	colon:	n/a	chr1:184986587-184986598
8	JUND	chr1:184985974-184986892	K562	blood:	n/a	chr1:184986587-184986598
9	SP1	chr1:184985961-184986987	HCT-116	colon:	n/a	n/a
10	MAFK	chr1:184986202-184986975	K562	blood:	n/a	n/a
11	KAP1	chr1:184986162-184986910	U2OS	brain:	n/a	n/a
12	SP1	chr1:184985970-184987064	HCT-116	colon:	n/a	n/a
13	CEBPB	chr1:184986193-184986945	HCT-116	colon:	n/a	chr1:184986640-184986651

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184985716..184988331-chr1:184988994..184992281,3	K562	blood:
2	chr1:184984889..184988154-chr1:185012581..185015445,4	K562	blood:

Variant related genes	Relation type
RNA5SP72	TF binding region
ENSG00000121481	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12062374	1.00[YRI][hapmap]
rs12077730	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs12094038	0.82[AFR][1000 genomes]
rs12098126	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184984000-184987600	Enhancers	Fetal Intestine Large	intestine
2	chr1:184984200-184986400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:184984600-184987400	Enhancers	K562	blood
4	chr1:184985000-184987200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:184985600-184987000	Enhancers	Hela-S3	cervix
6	chr1:184985600-184987400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:184985800-184987000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:184985800-184987000	Enhancers	Osteobl	bone
9	chr1:184985800-184987400	Enhancers	HMEC	breast
10	chr1:184985800-184987400	Enhancers	NHDF-Ad	bronchial
11	chr1:184985800-184987600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:184986000-184986600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:184986000-184986800	Enhancers	NHLF	lung
14	chr1:184986000-184987000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:184986000-184987000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:184986000-184987000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:184986000-184987000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:184986000-184987000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:184986000-184987000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:184986000-184987000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:184986000-184987000	Enhancers	NHEK	skin
22	chr1:184986000-184987200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:184986000-184987200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:184986200-184986600	Flanking Active TSS	A549	lung
25	chr1:184986200-184987000	Enhancers	NH-A	brain
26	chr1:184986200-184987400	Enhancers	HSMM	muscle

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