Variant report

Variant	rs4845418
Chromosome Location	chr1:152136230-152136231
allele	C/G
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	MAFF	chr1:152136209-152136396	HepG2	liver:	n/a	n/a
2	MAFK	chr1:152136133-152136439	HepG2	liver:	n/a	chr1:152136271-152136288
3	GATA3	chr1:152135044-152136287	MCF-7	breast:	n/a	chr1:152135595-152135602 chr1:152135588-152135609 chr1:152135593-152135603 chr1:152135595-152135602 chr1:152135593-152135602 chr1:152135595-152135602
4	MAFK	chr1:152136131-152136423	HepG2	liver:	n/a	chr1:152136271-152136288

No.	Distal block	Cell Line	Cell type
1	chr1:152125491..152127414-chr1:152134352..152136756,3	MCF-7	breast:
2	chr1:152134776..152137456-chr1:152158070..152159626,2	MCF-7	breast:
3	chr1:152134203..152137059-chr1:152140809..152145378,5	MCF-7	breast:
4	chr1:152006628..152009514-chr1:152135293..152138005,3	MCF-7	breast:
5	chr1:152125198..152127725-chr1:152135136..152137599,3	MCF-7	breast:
6	chr1:152082126..152084401-chr1:152135416..152137252,2	MCF-7	breast:
7	chr1:152134137..152136314-chr1:152136574..152139467,2	MCF-7	breast:
8	chr1:152006771..152009920-chr1:152134117..152139740,5	MCF-7	breast:

Variant related genes	Relation type
FLG-AS1	TF binding region
RPTN	TF binding region
ENSG00000163191	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11803731	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12082156	1.00[ASN][1000 genomes]
rs12123975	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12130862	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12134184	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17646946	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs34687484	1.00[ASN][1000 genomes]
rs34974291	1.00[ASN][1000 genomes]
rs36010924	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71625168	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv872442	chr1:152054120-152187641	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152131400-152145800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:152131600-152137000	Weak transcription	Stomach Mucosa	stomach
3	chr1:152133800-152137200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr1:152134400-152136400	Enhancers	NHEK	skin
5	chr1:152134800-152136600	Enhancers	Fetal Intestine Large	intestine
6	chr1:152134800-152138600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:152134800-152142200	Enhancers	HMEC	breast
8	chr1:152135000-152136600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:152135200-152138400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:152135400-152138800	Weak transcription	Adipose Nuclei	Adipose
11	chr1:152135600-152138600	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:152135600-152138600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:152135800-152136800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:152135800-152136800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:152135800-152137200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:152135800-152139600	Weak transcription	Hela-S3	cervix
17	chr1:152136000-152139000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:152136000-152139200	Weak transcription	HSMMtube	muscle
19	chr1:152136000-152139600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:152136000-152139800	Weak transcription	NH-A	brain
21	chr1:152136200-152136400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:152136200-152136600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
23	chr1:152136200-152137600	Weak transcription	GM12878-XiMat	blood
24	chr1:152136200-152139400	Weak transcription	NHDF-Ad	bronchial
25	chr1:152136200-152140000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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