Variant report

Variant	rs55974230
Chromosome Location	chr14:31975215-31975216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17097972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17097994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17097996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1958826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1958830	1.00[EUR][1000 genomes]
rs55795864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56055314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56942643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57066011	1.00[EUR][1000 genomes]
rs58963071	1.00[EUR][1000 genomes]
rs59945954	1.00[EUR][1000 genomes]
rs61142889	1.00[EUR][1000 genomes]
rs61258127	1.00[EUR][1000 genomes]
rs74040856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74040859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74040860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	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
5	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv518956	chr14:31958761-31983371	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv901590	chr14:31958761-32012593	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31973400-31976200	Enhancers	Ovary	ovary
2	chr14:31974200-31975400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:31974200-31975400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr14:31974200-31975400	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr14:31974200-31975600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:31974200-31975600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:31974200-31975600	Enhancers	Adipose Nuclei	Adipose
8	chr14:31974200-31975600	Enhancers	Fetal Lung	lung
9	chr14:31974200-31975600	Enhancers	Fetal Muscle Leg	muscle
10	chr14:31974200-31975600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr14:31974200-31975600	Enhancers	Right Ventricle	heart
12	chr14:31974200-31975600	Enhancers	HSMM	muscle
13	chr14:31974200-31975600	Enhancers	Osteobl	bone
14	chr14:31974600-31975400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:31974800-31975400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:31974800-31975400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:31974800-31975400	Flanking Active TSS	Fetal Heart	heart
18	chr14:31974800-31975600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:31974800-31975800	Enhancers	Rectal Smooth Muscle	rectum
20	chr14:31975000-31975800	Enhancers	Psoas Muscle	Psoas
21	chr14:31975000-31977200	Weak transcription	Right Atrium	heart
22	chr14:31975200-31975600	Enhancers	HSMMtube	muscle
23	chr14:31975200-31975800	Enhancers	Stomach Smooth Muscle	stomach
24	chr14:31975200-31978400	Weak transcription	Aorta	Aorta

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