Variant report

Variant	rs2378900
Chromosome Location	chr14:32115776-32115777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10047861	1.00[EUR][1000 genomes]
rs10132862	1.00[EUR][1000 genomes]
rs10137974	1.00[EUR][1000 genomes]
rs10142679	1.00[EUR][1000 genomes]
rs10143144	0.93[EUR][1000 genomes]
rs10148038	1.00[EUR][1000 genomes]
rs10149668	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150831	1.00[EUR][1000 genomes]
rs10151156	1.00[EUR][1000 genomes]
rs11846852	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11847014	1.00[EUR][1000 genomes]
rs11847815	1.00[EUR][1000 genomes]
rs11848462	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11850880	1.00[EUR][1000 genomes]
rs12894985	1.00[EUR][1000 genomes]
rs13379320	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1430424	1.00[EUR][1000 genomes]
rs17098019	1.00[EUR][1000 genomes]
rs17098168	1.00[EUR][1000 genomes]
rs17098171	0.93[EUR][1000 genomes]
rs1982013	1.00[EUR][1000 genomes]
rs1982014	1.00[EUR][1000 genomes]
rs2034070	0.86[EUR][1000 genomes]
rs2115957	1.00[EUR][1000 genomes]
rs2120135	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2120137	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2120138	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2163302	1.00[EUR][1000 genomes]
rs2378899	1.00[EUR][1000 genomes]
rs2378934	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28446445	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28532719	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28580449	0.93[EUR][1000 genomes]
rs28806946	1.00[EUR][1000 genomes]
rs28862034	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28864375	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55674235	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58097888	1.00[EUR][1000 genomes]
rs58213271	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58280106	0.93[EUR][1000 genomes]
rs58900150	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59002501	1.00[EUR][1000 genomes]
rs59679301	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60654485	0.93[EUR][1000 genomes]
rs6571449	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6571451	0.82[AMR][1000 genomes]
rs6571455	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6571456	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6571460	0.87[EUR][1000 genomes]
rs6571465	1.00[EUR][1000 genomes]
rs6571466	1.00[EUR][1000 genomes]
rs6571467	1.00[EUR][1000 genomes]
rs7140277	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7141267	1.00[EUR][1000 genomes]
rs7141477	1.00[EUR][1000 genomes]
rs7141722	1.00[EUR][1000 genomes]
rs7143532	1.00[EUR][1000 genomes]
rs7144178	1.00[EUR][1000 genomes]
rs7145785	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7147779	1.00[EUR][1000 genomes]
rs7148248	1.00[EUR][1000 genomes]
rs7150042	1.00[EUR][1000 genomes]
rs7150488	1.00[EUR][1000 genomes]
rs7150851	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7151198	1.00[EUR][1000 genomes]
rs7153885	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154277	1.00[EUR][1000 genomes]
rs7156676	1.00[EUR][1000 genomes]
rs7156907	1.00[EUR][1000 genomes]
rs7158443	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7158652	1.00[EUR][1000 genomes]
rs7158693	0.88[AMR][1000 genomes]
rs7159193	1.00[EUR][1000 genomes]
rs7159319	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7161592	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7161628	1.00[EUR][1000 genomes]
rs73253213	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73255199	1.00[EUR][1000 genomes]
rs74043606	1.00[EUR][1000 genomes]
rs8003033	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8004616	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8005763	1.00[EUR][1000 genomes]
rs8005857	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8009012	1.00[EUR][1000 genomes]
rs8010697	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8015179	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8015245	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8015640	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8018137	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8018529	0.86[EUR][1000 genomes]
rs8020874	1.00[EUR][1000 genomes]
rs8021182	1.00[EUR][1000 genomes]
rs8022324	1.00[EUR][1000 genomes]
rs970489	1.00[EUR][1000 genomes]
rs9743593	1.00[EUR][1000 genomes]
rs9743878	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3363142	chr14:32083250-32120361	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv901591	chr14:32093548-32202677	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv901592	chr14:32093548-32267323	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr14:32112200-32123200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:32114000-32116200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:32114200-32120400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:32115200-32115800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr14:32115400-32115800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:32115600-32116800	Weak transcription	Pancreas	Pancrea

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