Variant report

Variant	rs1424947
Chromosome Location	chr2:148547233-148547234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10460260	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12373822	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364656	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17218781	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17218847	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17218959	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17219064	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17225207	1.00[EUR][1000 genomes]
rs17225277	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17225332	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17231987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17232001	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56047077	1.00[EUR][1000 genomes]
rs56080347	1.00[EUR][1000 genomes]
rs56672225	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57347579	1.00[EUR][1000 genomes]
rs61232656	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73964115	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73964117	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73964118	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73964119	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73964132	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73964139	1.00[EUR][1000 genomes]
rs979635	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs997432	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148540600-148550200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:148546800-148547400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:148546800-148548000	Enhancers	NH-A	brain
4	chr2:148546800-148548200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:148547000-148547400	Enhancers	HMEC	breast
6	chr2:148547000-148547400	Enhancers	HSMMtube	muscle
7	chr2:148547000-148547400	Active TSS	Osteobl	bone
8	chr2:148547000-148547600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:148547000-148547600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:148547000-148547600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:148547000-148548000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:148547000-148548200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:148547000-148548200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:148547200-148547600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:148547200-148547600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:148547200-148549800	Weak transcription	HSMM	muscle

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