Variant report

Variant	rs2060594
Chromosome Location	chr14:81188866-81188867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10130315	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130613	0.95[YRI][hapmap]
rs10130908	0.91[YRI][hapmap]
rs10132840	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10132917	0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10133039	0.96[YRI][hapmap]
rs10133081	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10133159	0.83[AMR][1000 genomes]
rs10134049	0.96[YRI][hapmap]
rs10134286	0.96[YRI][hapmap]
rs10137290	0.92[YRI][hapmap]
rs10137669	0.95[YRI][hapmap]
rs10137867	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10139039	0.95[YRI][hapmap]
rs10139628	0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs10139720	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10141192	0.95[YRI][hapmap]
rs10142541	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10142758	0.92[YRI][hapmap]
rs10145160	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10145860	0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146123	0.96[YRI][hapmap]
rs10148517	0.96[YRI][hapmap]
rs10149433	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10151410	0.96[YRI][hapmap]
rs10438029	0.96[YRI][hapmap]
rs11844724	0.92[YRI][hapmap]
rs11845100	0.92[YRI][hapmap]
rs11847481	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11848607	0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11848667	0.91[AMR][1000 genomes]
rs11848744	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11849246	0.83[YRI][hapmap]
rs11851465	0.96[YRI][hapmap]
rs11851697	0.95[YRI][hapmap]
rs17111059	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17111220	0.91[YRI][hapmap]
rs1863767	0.90[YRI][hapmap]
rs2060595	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28394640	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28451240	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28535411	0.85[AFR][1000 genomes]
rs28608605	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28613768	0.85[AFR][1000 genomes]
rs28619915	0.83[AMR][1000 genomes]
rs28640160	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28702417	0.91[AMR][1000 genomes]
rs28718333	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28718570	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs35892759	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4636844	0.84[AFR][1000 genomes]
rs56291068	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58696376	0.82[AFR][1000 genomes]
rs58842394	0.83[AMR][1000 genomes]
rs59851850	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7140210	0.91[YRI][hapmap];0.91[AMR][1000 genomes]
rs7146496	0.86[YRI][hapmap]
rs7154345	0.96[YRI][hapmap]
rs74064526	0.91[AMR][1000 genomes]
rs74064527	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs74064529	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010968	0.95[YRI][hapmap]
rs8015542	0.95[YRI][hapmap]
rs8019256	0.91[YRI][hapmap];0.85[AFR][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

No data

Chromatin state (count:6 , 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	chr14:81185600-81192400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:81185600-81208600	Weak transcription	Thymus	Thymus
5	chr14:81185800-81221200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:81186200-81192200	Weak transcription	Dnd41	blood

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