Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11621593	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11850235	1.00[ASN][1000 genomes]
rs2003594	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2111829	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28393221	0.92[ASN][1000 genomes]
rs56339806	1.00[ASN][1000 genomes]
rs6493	1.00[ASN][1000 genomes]
rs7151836	1.00[ASN][1000 genomes]
rs72685236	1.00[ASN][1000 genomes]
rs72685238	1.00[ASN][1000 genomes]
rs72685246	1.00[ASN][1000 genomes]
rs72685267	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685288	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72685297	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72685302	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72687223	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72687241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687247	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72687256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688829	1.00[ASN][1000 genomes]
rs72688836	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7492501	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8015796	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[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	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 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	chr14:78253600-78260800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:78253600-78261800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:78253800-78266200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:78256600-78258000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:78256600-78258000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:78256600-78258200	Enhancers	Placenta	Placenta
7	chr14:78256600-78258400	Enhancers	Hela-S3	cervix
8	chr14:78256800-78258000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr14:78256800-78258000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:78256800-78258200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:78256800-78258200	Enhancers	NHEK	skin
12	chr14:78257000-78258000	Enhancers	HMEC	breast
13	chr14:78257000-78258200	Enhancers	HepG2	liver
14	chr14:78257200-78258000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr14:78257400-78257800	Weak transcription	Fetal Intestine Large	intestine
16	chr14:78257400-78262000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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