Variant report

Variant	rs2619676
Chromosome Location	chr14:81192479-81192480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10143005	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1031299	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11846048	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878836	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs1449526	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564940	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162178	0.86[CEU][hapmap];0.81[YRI][hapmap]
rs1960882	0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2060596	0.95[ASN][1000 genomes]
rs2371335	0.92[ASN][1000 genomes]
rs2371336	0.92[ASN][1000 genomes]
rs2596108	0.86[ASN][1000 genomes]
rs2619673	0.92[ASN][1000 genomes]
rs2619674	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327435	0.87[CEU][hapmap];0.82[YRI][hapmap]
rs327442	0.87[CEU][hapmap]
rs327443	0.87[CEU][hapmap]
rs327446	0.87[CEU][hapmap];0.82[YRI][hapmap]
rs327456	0.86[CEU][hapmap];0.91[YRI][hapmap]
rs327457	0.86[CEU][hapmap]
rs327462	0.87[CEU][hapmap]
rs327463	0.87[CEU][hapmap];0.82[YRI][hapmap]
rs327467	0.87[CEU][hapmap]
rs327470	0.87[CEU][hapmap];0.82[YRI][hapmap]
rs327472	0.87[CEU][hapmap];0.82[YRI][hapmap]
rs328240	0.90[YRI][hapmap]
rs8011273	0.87[CEU][hapmap];0.81[YRI][hapmap]
rs8019534	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs992358	0.80[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1035295	chr14:81180999-81236636	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2619676	C14orf145	cis	parietal	SCAN
rs2619676	VIPAR	cis	parietal	SCAN
rs2619676	C14orf145	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81182000-81206400	Weak transcription	Fetal Thymus	thymus
2	chr14:81182800-81224600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:81185600-81208600	Weak transcription	Thymus	Thymus
4	chr14:81185800-81221200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:81192000-81192800	Enhancers	NHEK	skin
6	chr14:81192200-81192600	Enhancers	HMEC	breast
7	chr14:81192200-81192800	Genic enhancers	Dnd41	blood
8	chr14:81192400-81192800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:81192400-81193000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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