Variant report

Variant	rs74056153
Chromosome Location	chr14:64062150-64062151
allele	C/T
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	chr14:64060612-64062197	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:64060578-64062206	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:64060442-64062193	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr14:64059530-64063027	K562	blood:	n/a	n/a
5	POLR2A	chr14:64060778-64062336	H1-hESC	embryonic stem cell:	n/a	n/a

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

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10083359	0.83[ASN][1000 genomes]
rs10083535	0.83[ASN][1000 genomes]
rs10131964	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132382	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10133932	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10137182	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137805	0.83[ASN][1000 genomes]
rs10137908	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10137933	0.83[ASN][1000 genomes]
rs10142782	0.87[EUR][1000 genomes]
rs10144827	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10148637	0.83[ASN][1000 genomes]
rs10149710	0.83[ASN][1000 genomes]
rs10149737	0.83[ASN][1000 genomes]
rs10149828	0.83[ASN][1000 genomes]
rs10150009	0.83[ASN][1000 genomes]
rs1255792	0.96[ASN][1000 genomes]
rs1262228	0.96[ASN][1000 genomes]
rs17101315	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236339	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28373566	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28575623	0.83[ASN][1000 genomes]
rs28633552	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28707240	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28778590	0.87[ASN][1000 genomes]
rs28796021	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28821865	0.83[ASN][1000 genomes]
rs4420451	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55659518	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58485817	0.83[ASN][1000 genomes]
rs60269901	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60327717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61984037	0.96[ASN][1000 genomes]
rs61984047	0.83[ASN][1000 genomes]
rs6573525	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7142943	1.00[ASN][1000 genomes]
rs7145740	0.96[ASN][1000 genomes]
rs7148824	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156289	1.00[ASN][1000 genomes]
rs7156393	1.00[ASN][1000 genomes]
rs73263604	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73263616	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73263627	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73280637	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280645	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280662	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280667	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280672	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7359072	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7359073	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74056152	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056154	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8007512	1.00[ASN][1000 genomes]
rs8009516	0.83[ASN][1000 genomes]
rs8012130	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012691	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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:69 , 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	chr14:64060000-64062200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:64060400-64062200	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr14:64060400-64062400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr14:64060400-64062800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr14:64060600-64062200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:64060600-64062200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:64060600-64062200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:64060600-64062200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:64060600-64062200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:64060600-64062200	ZNF genes & repeats	Esophagus	oesophagus
13	chr14:64060600-64062600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr14:64060600-64062600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:64060800-64062200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:64060800-64062200	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr14:64060800-64062200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
18	chr14:64060800-64062400	ZNF genes & repeats	Placenta	Placenta
19	chr14:64060800-64062600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:64060800-64062800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:64060800-64062800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
22	chr14:64060800-64063000	ZNF genes & repeats	Brain Germinal Matrix	brain
23	chr14:64060800-64063200	ZNF genes & repeats	Aorta	Aorta
24	chr14:64060800-64063600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:64060800-64063600	ZNF genes & repeats	Dnd41	blood
26	chr14:64061000-64062200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:64061000-64062200	ZNF genes & repeats	Lung	lung
28	chr14:64061000-64062200	ZNF genes & repeats	Thymus	Thymus
29	chr14:64061000-64062400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:64061000-64063000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr14:64061000-64063200	ZNF genes & repeats	Fetal Muscle Leg	muscle
32	chr14:64061000-64065400	Weak transcription	Brain Angular Gyrus	brain
33	chr14:64061200-64062200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr14:64061200-64062200	ZNF genes & repeats	Fetal Brain Female	brain
35	chr14:64061200-64062200	ZNF genes & repeats	Fetal Stomach	stomach
36	chr14:64061200-64062200	ZNF genes & repeats	Fetal Thymus	thymus
37	chr14:64061200-64062200	ZNF genes & repeats	Gastric	stomach
38	chr14:64061200-64065400	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:64061200-64065600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr14:64061200-64081200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:64061400-64062200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:64061400-64065200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:64061400-64065200	ZNF genes & repeats	Primary T cells from cord blood	blood
44	chr14:64061600-64062200	ZNF genes & repeats	Liver	Liver
45	chr14:64061600-64062200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
46	chr14:64061600-64063800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr14:64061600-64064600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:64061600-64065200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr14:64061800-64062200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr14:64061800-64063000	ZNF genes & repeats	A549	lung

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