Variant report

Variant	rs8003402
Chromosome Location	chr14:81446306-81446307
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1035145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11850285	0.94[ASN][1000 genomes]
rs12586161	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs12589960	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12590262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12890859	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs12892567	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs2110695	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2160214	1.00[CEU][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2268453	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2284715	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs2284716	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs2284721	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2284723	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2284725	0.96[ASN][1000 genomes]
rs2284728	0.96[ASN][1000 genomes]
rs2284729	0.81[AMR][1000 genomes]
rs2284731	0.81[AMR][1000 genomes]
rs2284732	0.81[AMR][1000 genomes]
rs2300517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2300518	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2300520	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs35789224	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs36193909	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3783946	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56169819	0.81[AMR][1000 genomes]
rs58838870	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59103962	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59627467	0.96[ASN][1000 genomes]
rs67130762	0.82[AMR][1000 genomes]
rs67256654	0.82[AMR][1000 genomes]
rs68104217	0.82[AMR][1000 genomes]
rs7149900	0.82[AMR][1000 genomes]
rs7154106	0.82[AMR][1000 genomes]
rs7154821	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72693081	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72693091	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8022899	0.83[AMR][1000 genomes];0.94[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	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	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81442200-81447600	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:81444000-81447800	Weak transcription	Aorta	Aorta
3	chr14:81444000-81447800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:81444800-81447800	Weak transcription	Placenta	Placenta
5	chr14:81444800-81447800	Weak transcription	Psoas Muscle	Psoas
6	chr14:81445000-81446600	Enhancers	Thymus	Thymus
7	chr14:81445000-81446800	Enhancers	Fetal Thymus	thymus
8	chr14:81445800-81447000	Enhancers	Dnd41	blood
9	chr14:81446000-81448000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:81446200-81446600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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