Variant report

Variant	rs28670423
Chromosome Location	chr8:62554942-62554943
allele	A/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	chr8:62554340-62555048	U87	brain:	n/a	n/a
2	POLR2A	chr8:62551754-62555015	U87	brain:	n/a	n/a
3	POLR2A	chr8:62554340-62555054	U87	brain:	n/a	n/a
4	POLR2A	chr8:62551729-62555032	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62547997..62552213-chr8:62552440..62555708,3	K562	blood:

Variant related genes	Relation type
ASPH	TF binding region
ENSG00000198363	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10087488	1.00[AMR][1000 genomes]
rs10092232	1.00[AMR][1000 genomes]
rs10094823	1.00[AMR][1000 genomes]
rs10095066	1.00[AFR][1000 genomes]
rs10096419	1.00[AMR][1000 genomes]
rs10096503	1.00[AMR][1000 genomes]
rs10098405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10099005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10099587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10100762	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10101335	1.00[AMR][1000 genomes]
rs10104313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10104459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10108389	1.00[AMR][1000 genomes]
rs10113315	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28374092	1.00[AMR][1000 genomes]
rs28408834	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28460340	1.00[AMR][1000 genomes]
rs28491327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28550168	1.00[AMR][1000 genomes]
rs28562585	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28582737	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28664022	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28667387	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28668164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28723591	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28831834	1.00[AMR][1000 genomes]
rs9298054	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62511400-62567800	Weak transcription	Stomach Mucosa	stomach
2	chr8:62513000-62594800	Weak transcription	Brain Anterior Caudate	brain
3	chr8:62518000-62597600	Weak transcription	Small Intestine	intestine
4	chr8:62532000-62558800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:62532200-62555600	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr8:62532600-62565600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:62534400-62561000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:62534800-62556000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:62534800-62564000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:62534800-62564600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:62535400-62558400	Weak transcription	Aorta	Aorta
13	chr8:62535400-62566800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:62536200-62564800	Strong transcription	NH-A	brain
15	chr8:62536400-62562200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:62536600-62556600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:62536800-62558200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:62537200-62561000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr8:62539800-62559600	Genic enhancers	A549	lung
20	chr8:62540200-62561000	Weak transcription	Brain Germinal Matrix	brain
21	chr8:62540400-62562200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:62540600-62566000	Strong transcription	Osteobl	bone
23	chr8:62541000-62557600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:62541000-62563800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:62542000-62556600	Strong transcription	HMEC	breast
26	chr8:62542200-62565000	Strong transcription	Adipose Nuclei	Adipose
27	chr8:62542400-62556400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:62542600-62561000	Weak transcription	Fetal Thymus	thymus
29	chr8:62542600-62565600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:62542600-62567000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:62542800-62600000	Weak transcription	Psoas Muscle	Psoas
32	chr8:62543800-62565000	Strong transcription	Hela-S3	cervix
33	chr8:62544200-62559400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:62544600-62555600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:62544600-62573800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:62547200-62555800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:62547200-62557200	Weak transcription	Primary B cells from cord blood	blood
38	chr8:62547600-62555400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:62547600-62559600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:62547800-62565000	Strong transcription	HSMM	muscle
41	chr8:62548400-62567200	Strong transcription	NHDF-Ad	bronchial
42	chr8:62548600-62555000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr8:62548600-62555200	Strong transcription	NHLF	lung
44	chr8:62548600-62556800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr8:62548600-62557600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:62548600-62560800	Strong transcription	Liver	Liver
47	chr8:62548800-62559600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:62548800-62561000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:62549000-62558600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:62549600-62559400	Weak transcription	GM12878-XiMat	blood

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