Variant report

Variant	rs12588444
Chromosome Location	chr14:79165217-79165218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10147949	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs1035612	1.00[AFR][1000 genomes]
rs10483916	1.00[ASW][hapmap]
rs12586229	1.00[AFR][1000 genomes]
rs12587427	1.00[AFR][1000 genomes]
rs12588327	1.00[AFR][1000 genomes]
rs1509152	1.00[ASW][hapmap]
rs17107869	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs17107885	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs17107887	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs17107898	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[AFR][1000 genomes]
rs17107907	1.00[AFR][1000 genomes]
rs17107912	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs17107978	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[AFR][1000 genomes]
rs17107986	1.00[AFR][1000 genomes]
rs17107993	1.00[AFR][1000 genomes]
rs17108011	1.00[AFR][1000 genomes]
rs17108021	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs17108073	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17108078	1.00[AFR][1000 genomes]
rs17108121	1.00[ASW][hapmap]
rs17108322	1.00[AFR][1000 genomes]
rs2287495	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs3919592	1.00[ASW][hapmap]
rs56658384	1.00[AFR][1000 genomes]
rs56813549	1.00[AFR][1000 genomes]
rs57388154	1.00[AFR][1000 genomes]
rs58271165	1.00[AFR][1000 genomes]
rs58355788	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs58525848	1.00[AFR][1000 genomes]
rs59354957	1.00[AFR][1000 genomes]
rs60118334	1.00[AFR][1000 genomes]
rs7142533	1.00[AFR][1000 genomes]
rs7153070	1.00[AFR][1000 genomes]
rs8003025	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760000	chr14:78875607-79173528	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2758363	chr14:78903610-79173528	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv565236	chr14:79156377-79165596	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv565237	chr14:79157040-79165608	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	esv3530261	chr14:79159000-79165796	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	esv3530263	chr14:79159029-79165792	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	esv3530262	chr14:79159066-79165745	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	esv3530264	chr14:79159066-79165745	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
9	esv13449	chr14:79159520-79165627	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
10	nsv565240	chr14:79160430-79165596	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
11	nsv565241	chr14:79160430-79165608	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
12	nsv565242	chr14:79160430-79166221	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
13	esv2421742	chr14:79160946-79165608	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
14	nsv442348	chr14:79161185-79165607	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
15	nsv565243	chr14:79161542-79165608	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
16	nsv517018	chr14:79161622-79165217	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
17	nsv565244	chr14:79161622-79165608	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
18	nsv524797	chr14:79161622-79167881	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
19	nsv514753	chr14:79161727-79165327	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
20	nsv565245	chr14:79162573-79165217	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
21	nsv565246	chr14:79162967-79165608	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79164800-79167600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:79165000-79176800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:79165000-79181000	Weak transcription	Brain Inferior Temporal Lobe	brain

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