Variant report

Variant	rs62514219
Chromosome Location	chr8:115909888-115909889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10109921	0.80[EUR][1000 genomes]
rs10505238	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505240	0.84[ASN][1000 genomes]
rs10505241	0.81[ASN][1000 genomes]
rs10955736	0.90[ASN][1000 genomes]
rs11987323	0.80[EUR][1000 genomes]
rs11987349	0.80[EUR][1000 genomes]
rs12334634	0.80[EUR][1000 genomes]
rs12335206	0.80[EUR][1000 genomes]
rs16886632	0.93[ASN][1000 genomes]
rs16886637	0.93[ASN][1000 genomes]
rs16886646	0.93[ASN][1000 genomes]
rs16886689	0.84[ASN][1000 genomes]
rs16886694	0.84[ASN][1000 genomes]
rs16886705	0.80[EUR][1000 genomes]
rs16886707	0.80[EUR][1000 genomes]
rs16886718	0.81[ASN][1000 genomes]
rs16886729	0.81[ASN][1000 genomes]
rs16886749	0.81[ASN][1000 genomes]
rs16886751	0.81[ASN][1000 genomes]
rs16886753	0.81[ASN][1000 genomes]
rs16886754	0.81[ASN][1000 genomes]
rs17667338	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17729017	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17729840	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1872780	0.80[EUR][1000 genomes]
rs1872781	0.80[EUR][1000 genomes]
rs2357737	0.80[EUR][1000 genomes]
rs2357738	0.80[EUR][1000 genomes]
rs2357740	0.80[EUR][1000 genomes]
rs2357741	0.80[EUR][1000 genomes]
rs2357742	0.80[EUR][1000 genomes]
rs28522482	0.80[EUR][1000 genomes]
rs28766963	0.80[EUR][1000 genomes]
rs4295691	0.80[EUR][1000 genomes]
rs4300037	0.80[EUR][1000 genomes]
rs4379477	0.93[ASN][1000 genomes]
rs4379479	0.93[ASN][1000 genomes]
rs4515577	0.93[ASN][1000 genomes]
rs56667189	0.84[ASN][1000 genomes]
rs59268685	0.84[ASN][1000 genomes]
rs62511963	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514166	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514182	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673380	0.80[EUR][1000 genomes]
rs6980860	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989745	0.80[EUR][1000 genomes]
rs6990360	0.83[ASN][1000 genomes]
rs7005793	0.80[EUR][1000 genomes]
rs7005826	0.93[ASN][1000 genomes]
rs7006126	0.90[ASN][1000 genomes]
rs7013533	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833267	0.93[ASN][1000 genomes]
rs7835335	0.81[ASN][1000 genomes]
rs7835429	0.80[EUR][1000 genomes]
rs7841613	0.81[ASN][1000 genomes]
rs9297536	0.80[EUR][1000 genomes]
rs9632821	0.80[EUR][1000 genomes]
rs9643095	0.98[ASN][1000 genomes]
rs9643096	0.93[ASN][1000 genomes]
rs9643097	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv611976	chr8:115261134-116223865	Weak transcription Enhancers Active TSS Strong transcription Flanking 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	8 gene(s)	inside rSNPs	diseases
2	nsv1018280	chr8:115307838-116189192	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv539726	chr8:115307838-116189192	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv891372	chr8:115351857-116037119	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv891373	chr8:115351857-116295809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv891377	chr8:115395451-116110725	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv891395	chr8:115642536-116222842	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2754852	chr8:115803396-115958801	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv891397	chr8:115810385-116129344	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv2752194	chr8:115836494-115945911	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3349000	chr8:115899825-115937205	Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115909000-115910200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:115909400-115910200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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