Variant report

Variant	rs6573525
Chromosome Location	chr14:64063212-64063213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:64062922-64063240	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000258800	TF binding region
ENSG00000270878	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10131964	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10132382	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10133598	0.95[ASN][1000 genomes]
rs10133932	0.83[EUR][1000 genomes]
rs10137182	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10137908	0.83[EUR][1000 genomes]
rs10142782	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10144435	0.95[ASN][1000 genomes]
rs10144827	0.83[EUR][1000 genomes]
rs10148797	0.95[ASN][1000 genomes]
rs10498509	0.90[ASN][1000 genomes]
rs12323694	0.95[ASN][1000 genomes]
rs17101315	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17101326	0.90[ASN][1000 genomes]
rs17101328	0.90[ASN][1000 genomes]
rs2236339	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28373566	0.86[EUR][1000 genomes]
rs28401525	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28568596	0.95[ASN][1000 genomes]
rs28589765	0.95[ASN][1000 genomes]
rs28590010	0.85[ASN][1000 genomes]
rs28633552	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28707240	0.83[EUR][1000 genomes]
rs28733391	0.90[ASN][1000 genomes]
rs28754898	0.95[ASN][1000 genomes]
rs28796021	0.83[EUR][1000 genomes]
rs28871365	0.95[ASN][1000 genomes]
rs4420451	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55659518	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56898919	0.90[ASN][1000 genomes]
rs60269901	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60327717	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61984019	0.95[ASN][1000 genomes]
rs7142943	0.83[ASN][1000 genomes]
rs7148824	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7156289	0.83[ASN][1000 genomes]
rs7156393	0.83[ASN][1000 genomes]
rs73263604	0.86[EUR][1000 genomes]
rs73263616	0.83[EUR][1000 genomes]
rs73263627	0.83[EUR][1000 genomes]
rs73280610	0.95[ASN][1000 genomes]
rs73280637	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73280645	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73280662	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73280667	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73280672	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7359072	0.86[EUR][1000 genomes]
rs7359073	0.82[EUR][1000 genomes]
rs74056152	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74056153	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74056154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007512	0.83[ASN][1000 genomes]
rs8012130	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8012691	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8022456	0.95[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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1048645	chr14:64057327-64283872	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64059200-64065600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:64059800-64064800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:64060800-64063600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:64060800-64063600	ZNF genes & repeats	Dnd41	blood
5	chr14:64061000-64065400	Weak transcription	Brain Angular Gyrus	brain
6	chr14:64061200-64065400	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:64061200-64065600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr14:64061200-64081200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:64061400-64065200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:64061400-64065200	ZNF genes & repeats	Primary T cells from cord blood	blood
11	chr14:64061600-64063800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr14:64061600-64064600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:64061600-64065200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr14:64061800-64065200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:64061800-64065200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:64061800-64065200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:64061800-64065600	Weak transcription	Ovary	ovary
18	chr14:64062000-64063800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:64062000-64065000	Weak transcription	HSMM	muscle
20	chr14:64062000-64065200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:64062000-64065200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:64062000-64065400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:64062000-64065400	Weak transcription	Fetal Lung	lung
24	chr14:64062000-64065600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:64062000-64065600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:64062000-64065600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr14:64062000-64065600	Weak transcription	Pancreas	Pancrea
28	chr14:64062000-64065600	Weak transcription	Right Ventricle	heart
29	chr14:64062000-64065600	Weak transcription	HSMMtube	muscle
30	chr14:64062000-64108000	Weak transcription	Spleen	Spleen
31	chr14:64062200-64063400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:64062200-64064400	Weak transcription	Fetal Thymus	thymus
33	chr14:64062200-64064600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:64062200-64064600	Weak transcription	Osteobl	bone
35	chr14:64062200-64065400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:64062200-64065400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:64062200-64065400	Weak transcription	Liver	Liver
38	chr14:64062200-64065400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr14:64062200-64065400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:64062200-64065400	Weak transcription	Stomach Mucosa	stomach
41	chr14:64062200-64065600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:64062200-64065600	Weak transcription	Adipose Nuclei	Adipose
43	chr14:64062200-64065600	Weak transcription	Gastric	stomach
44	chr14:64062200-64065600	Weak transcription	Left Ventricle	heart
45	chr14:64062200-64065600	Weak transcription	Lung	lung
46	chr14:64062200-64065600	Weak transcription	Thymus	Thymus
47	chr14:64062200-64067800	Weak transcription	Colonic Mucosa	Colon
48	chr14:64062200-64068600	Weak transcription	Fetal Stomach	stomach
49	chr14:64062200-64070000	Weak transcription	Fetal Brain Female	brain
50	chr14:64062200-64070400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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