Variant report

Variant	rs28406352
Chromosome Location	chr8:95509472-95509473
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	chr8:95509319-95509538	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
KIAA1429	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10086307	0.96[EUR][1000 genomes]
rs10086311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10087221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10089982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10090029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10090628	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10093542	0.96[EUR][1000 genomes]
rs10094155	1.00[EUR][1000 genomes]
rs10094298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10094477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10097107	0.96[EUR][1000 genomes]
rs10098298	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10098682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10102139	0.96[EUR][1000 genomes]
rs10103436	0.96[EUR][1000 genomes]
rs10104301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104797	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10105476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10106455	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10110389	0.96[EUR][1000 genomes]
rs10111251	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10111789	0.91[AMR][1000 genomes]
rs10217108	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10441536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10441537	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1055798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334369	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334578	0.96[EUR][1000 genomes]
rs12334783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334990	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12335104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13438933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13438940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439154	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13439558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2119461	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2381883	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28386976	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28397924	0.96[EUR][1000 genomes]
rs28409018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28420254	0.96[EUR][1000 genomes]
rs28436849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28449797	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28475734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28480604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28481457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28498495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28502182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28524089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28526027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28539788	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28542193	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28563951	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28564036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28572173	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28608052	0.96[EUR][1000 genomes]
rs28634264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28666401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28681034	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28775004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28791815	0.83[AMR][1000 genomes]
rs28805925	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28829590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28848914	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28897138	0.91[AMR][1000 genomes]
rs3136421	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4567002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56859277	0.96[EUR][1000 genomes]
rs57897120	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6992902	0.96[EUR][1000 genomes]
rs6998829	0.96[EUR][1000 genomes]
rs73695616	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73695617	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73695619	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73695620	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73695622	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73695624	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73698013	0.96[EUR][1000 genomes]
rs7835534	1.00[AFR][1000 genomes]
rs8117	1.00[EUR][1000 genomes]
rs9297938	0.96[EUR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95495200-95538400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:95495600-95541000	Weak transcription	Esophagus	oesophagus
4	chr8:95497200-95510600	Weak transcription	Colonic Mucosa	Colon
5	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:95498200-95510200	Weak transcription	Gastric	stomach
7	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:95498800-95512200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:95499200-95511800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:95499200-95512200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:95499200-95512400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:95499200-95514400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:95499200-95515200	Strong transcription	Fetal Thymus	thymus
14	chr8:95499200-95519000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:95499200-95519000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:95499400-95512200	Strong transcription	Adipose Nuclei	Adipose
17	chr8:95499400-95512200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr8:95499400-95512400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:95499400-95513200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:95499400-95514200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:95499400-95514400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:95499400-95519000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:95499400-95519000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr8:95499400-95533400	Strong transcription	Placenta	Placenta
25	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:95499600-95514600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr8:95499600-95515400	Strong transcription	Liver	Liver
28	chr8:95499800-95511000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr8:95499800-95512200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:95499800-95512600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr8:95500000-95509600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr8:95500200-95510000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:95500200-95511800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:95500200-95511800	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:95500200-95512000	Strong transcription	Dnd41	blood
36	chr8:95500200-95512200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:95500200-95512200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr8:95500200-95512800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:95500200-95512800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:95500200-95519000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr8:95500400-95509800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr8:95500400-95512200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:95500400-95512600	Strong transcription	Fetal Intestine Large	intestine
44	chr8:95500400-95512600	Strong transcription	Fetal Muscle Leg	muscle
45	chr8:95500400-95514000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:95500400-95514200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr8:95500400-95524600	Weak transcription	Stomach Mucosa	stomach
48	chr8:95500800-95512200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:95501200-95541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:95502600-95516800	Weak transcription	Fetal Heart	heart

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