Variant report

Variant	rs1948024
Chromosome Location	chr2:151907150-151907151
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	PBX3	chr2:151907061-151907804	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr2:151907141-151907782	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr2:151906940-151907832	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr2:151907020-151907170	Caco-2	colon:	n/a	n/a

Variant related genes	Relation type
ENSG00000222031	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10167188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10754973	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478383	1.00[EUR][1000 genomes]
rs1351931	1.00[EUR][1000 genomes]
rs1351932	1.00[EUR][1000 genomes]
rs1351934	1.00[EUR][1000 genomes]
rs1351935	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1351936	1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385425	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385433	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1485100	1.00[EUR][1000 genomes]
rs1485114	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1485115	1.00[EUR][1000 genomes]
rs1485119	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1485120	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1485123	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1485128	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1485129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1485130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586256	1.00[EUR][1000 genomes]
rs16829378	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1843272	1.00[EUR][1000 genomes]
rs1905750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341847	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341848	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664909	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664910	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433131	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433135	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705392	1.00[EUR][1000 genomes]
rs6761406	1.00[EUR][1000 genomes]
rs7589036	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9789772	1.00[EUR][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	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151905800-151907200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:151905800-151907600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:151905800-151907600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:151905800-151908600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:151905800-151909000	Enhancers	HMEC	breast
6	chr2:151906000-151907400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:151906000-151907600	Enhancers	Fetal Intestine Large	intestine
8	chr2:151906000-151908600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:151906000-151908600	Enhancers	NHEK	skin
10	chr2:151906000-151910600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:151906000-151910800	Enhancers	NHDF-Ad	bronchial
12	chr2:151906200-151907800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:151906400-151907200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:151906400-151907600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:151906400-151912600	Weak transcription	NHLF	lung
16	chr2:151906800-151908000	Weak transcription	Osteobl	bone
17	chr2:151906800-151908200	Weak transcription	Liver	Liver
18	chr2:151907000-151907200	Enhancers	Rectal Smooth Muscle	rectum

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