Variant report

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1604247	1.00[ASN][1000 genomes]
rs1604248	1.00[ASN][1000 genomes]
rs1604249	1.00[ASN][1000 genomes]
rs1846846	1.00[ASN][1000 genomes]
rs4682436	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682443	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55884450	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56322623	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56370936	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223880	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225770	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225772	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225774	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73225789	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7433444	0.90[AMR][1000 genomes];0.93[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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3501334	chr3:112546820-112648766	Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3501335	chr3:112546820-112648766	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112604200-112616400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:112608800-112614800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:112612000-112617400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:112612400-112614400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:112612600-112613600	Enhancers	HSMM	muscle
6	chr3:112612800-112613600	Enhancers	A549	lung
7	chr3:112612800-112613800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:112612800-112613800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:112612800-112614200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:112612800-112615600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:112613000-112613600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:112613000-112613600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:112613000-112613600	Enhancers	HSMMtube	muscle
14	chr3:112613000-112615800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:112613200-112613600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:112613200-112613600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:112613200-112613600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:112613200-112613600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:112613200-112613600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:112613200-112613600	Enhancers	K562	blood
21	chr3:112613200-112614000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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