Variant report

Variant	rs5022383
Chromosome Location	chr14:55981868-55981869
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1009713	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10130266	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10130268	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10130280	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10130766	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10130958	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10133799	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10133811	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10133856	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10133996	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10134364	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10134583	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10136748	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10139315	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10139652	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12172808	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12172820	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2181737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181738	0.98[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2181739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55838401	0.87[ASN][1000 genomes]
rs7142593	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7142616	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143896	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144244	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719424	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72719434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1047054	chr14:55922287-56035579	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1037161	chr14:55928030-56039353	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5022383	KTN1	cis	multi-tissue	Pritchard

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55979000-55983200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr14:55979400-55983600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:55979400-55985200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:55980800-55982200	Enhancers	Osteobl	bone
5	chr14:55981000-55982000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:55981000-55982600	Enhancers	NHEK	skin
7	chr14:55981200-55982000	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr14:55981200-55982000	Enhancers	NHLF	lung
9	chr14:55981200-55982200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:55981200-55982200	Enhancers	Hela-S3	cervix
11	chr14:55981200-55982200	Enhancers	HMEC	breast
12	chr14:55981200-55982600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:55981200-55982600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:55981200-55983000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:55981400-55982000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr14:55981600-55982000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr14:55981600-55982000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr14:55981600-55982000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:55981600-55982000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:55981600-55982000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:55981600-55982000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:55981600-55982000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:55981600-55982000	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr14:55981600-55982000	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr14:55981600-55982000	Flanking Active TSS	NHDF-Ad	bronchial
26	chr14:55981600-55982200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:55981600-55982200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:55981600-55982200	Active TSS	Brain Angular Gyrus	brain
29	chr14:55981600-55982200	Flanking Active TSS	NH-A	brain
30	chr14:55981600-55982400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:55981600-55982400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:55981600-55982400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:55981800-55982000	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr14:55981800-55982200	Flanking Active TSS	HUVEC	blood vessel
35	chr14:55981800-55982400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:55981800-55982400	Enhancers	Adipose Nuclei	Adipose
37	chr14:55981800-55982400	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr14:55981800-55982800	Enhancers	Fetal Muscle Leg	muscle

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