Variant report

Variant	rs45474396
Chromosome Location	chr14:68060574-68060575
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	JUND	chr14:68060425-68060601	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:68060364-68060655	GM12878	blood:	n/a	n/a
3	JUN	chr14:68060462-68060598	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
PIGH	TF binding region

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10129995	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3742872	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3742875	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899212	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61990083	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990084	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61990086	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990087	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990109	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990110	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990111	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990112	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61990113	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990114	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990115	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990116	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990117	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573785	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146307	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72721044	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs749270	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8010574	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8011057	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
2	chr14:68039600-68061000	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr14:68042400-68062000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:68044600-68065800	Weak transcription	Fetal Kidney	kidney
5	chr14:68044800-68061200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr14:68045000-68061000	Strong transcription	Placenta	Placenta
7	chr14:68047400-68065800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:68048000-68065600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:68048000-68066200	Weak transcription	Colonic Mucosa	Colon
10	chr14:68048400-68063000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr14:68049200-68064800	Weak transcription	Stomach Mucosa	stomach
12	chr14:68050200-68062600	Strong transcription	Fetal Stomach	stomach
13	chr14:68051000-68065600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:68051000-68066000	Weak transcription	Fetal Heart	heart
15	chr14:68051400-68061000	Strong transcription	Primary T cells from cord blood	blood
16	chr14:68051800-68061000	Strong transcription	Stomach Smooth Muscle	stomach
17	chr14:68051800-68064600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:68052000-68061000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr14:68052200-68061000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:68052200-68061200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:68052200-68061200	Strong transcription	Left Ventricle	heart
22	chr14:68052200-68062600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:68052400-68060600	Strong transcription	Thymus	Thymus
24	chr14:68052400-68061000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:68052400-68061000	Strong transcription	Adipose Nuclei	Adipose
26	chr14:68052400-68061000	Strong transcription	Fetal Thymus	thymus
27	chr14:68052400-68061400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:68052800-68062800	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr14:68053000-68061000	Strong transcription	Lung	lung
30	chr14:68053000-68061400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:68053000-68061400	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr14:68053200-68066000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:68053400-68062600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:68053400-68065800	Weak transcription	Osteobl	bone
35	chr14:68053600-68065800	Weak transcription	NH-A	brain
36	chr14:68053600-68066000	Weak transcription	HUVEC	blood vessel
37	chr14:68053800-68061000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:68054200-68061200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr14:68054400-68061200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:68054400-68065800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr14:68054600-68060800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:68054600-68060800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr14:68054600-68061000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr14:68054600-68061000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr14:68054600-68061200	Strong transcription	Dnd41	blood
46	chr14:68054800-68060800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:68054800-68061000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:68054800-68061000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:68054800-68061200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr14:68054800-68066000	Weak transcription	HSMM	muscle

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