Variant report

Variant	rs705612
Chromosome Location	chr6:101353230-101353231
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11155726	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189857	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17061209	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17061230	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17673031	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2749130	1.00[ASN][1000 genomes]
rs2756040	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240592	1.00[ASN][1000 genomes]
rs4615398	1.00[ASN][1000 genomes]
rs4839795	1.00[ASN][1000 genomes]
rs592463	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600653	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601360	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606032	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609522	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs612117	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs612459	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613338	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614097	1.00[ASN][1000 genomes]
rs617365	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs625745	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs626411	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635258	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648360	1.00[EUR][1000 genomes]
rs668932	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673119	0.80[EUR][1000 genomes]
rs673138	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674589	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67917362	0.80[EUR][1000 genomes]
rs705594	1.00[ASN][1000 genomes]
rs705595	1.00[ASN][1000 genomes]
rs705598	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705601	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705602	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705609	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705618	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705619	0.99[EUR][1000 genomes]
rs705620	0.80[EUR][1000 genomes]
rs72942892	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72944877	1.00[ASN][1000 genomes]
rs72946427	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72947091	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951137	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951161	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7740295	1.00[ASN][1000 genomes]
rs7755696	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817226	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs817227	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs817234	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs846784	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846796	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs861752	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9390724	1.00[ASN][1000 genomes]
rs9498487	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
2	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS 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	8 gene(s)	inside rSNPs	diseases
3	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv2763587	chr6:101277874-101510491	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv981366	chr6:101350432-101366644	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101352200-101353800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr6:101352200-101354600	Enhancers	Dnd41	blood
3	chr6:101352800-101353400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr6:101352800-101354000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:101353000-101353400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:101353200-101353400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:101353200-101353400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:101353200-101354200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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