Variant report

Variant	rs28461952
Chromosome Location	chr8:124374440-124374441
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	chr8:124374303-124374500	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124286585..124289064-chr8:124373830..124375504,2	K562	blood:
2	chr8:124372868..124374632-chr8:124380228..124381829,2	K562	blood:

Variant related genes	Relation type
ATAD2	TF binding region
ENSG00000165156	Chromatin interaction
ENSG00000156802	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10089968	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10103175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10104148	0.83[AMR][1000 genomes]
rs11989904	0.83[AMR][1000 genomes]
rs11991144	0.83[AFR][1000 genomes]
rs11996182	0.83[AMR][1000 genomes]
rs11997908	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16898257	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1869248	0.83[AMR][1000 genomes]
rs3857955	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs5001348	0.83[AMR][1000 genomes]
rs6987701	0.83[AMR][1000 genomes]
rs6990003	0.83[AMR][1000 genomes]
rs7003464	0.83[AMR][1000 genomes]
rs7007690	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7009541	0.83[AMR][1000 genomes]
rs7817491	0.83[AFR][1000 genomes]
rs900629	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv891428	chr8:124347228-124386782	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA miRNA target site	7 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	chr8:124325000-124379400	Weak transcription	Right Ventricle	heart
2	chr8:124328400-124386400	Weak transcription	Lung	lung
3	chr8:124329000-124379600	Weak transcription	Pancreas	Pancrea
4	chr8:124329400-124385000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:124329600-124384200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:124329800-124394200	Strong transcription	Dnd41	blood
7	chr8:124330200-124386400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:124330400-124383200	Weak transcription	Colonic Mucosa	Colon
9	chr8:124330400-124393400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:124330400-124394600	Strong transcription	Fetal Thymus	thymus
11	chr8:124330600-124393000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:124331000-124377600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:124331600-124383800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:124333000-124387600	Weak transcription	Fetal Brain Male	brain
15	chr8:124334400-124378800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:124335200-124398600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:124335600-124398600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:124336400-124384200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:124339600-124375000	Strong transcription	Hela-S3	cervix
20	chr8:124341600-124406800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:124342800-124388000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr8:124344400-124386600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:124345600-124396400	Weak transcription	Psoas Muscle	Psoas
24	chr8:124347200-124375200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:124348600-124398400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:124349400-124398200	Weak transcription	Aorta	Aorta
27	chr8:124350000-124378600	Weak transcription	Fetal Brain Female	brain
28	chr8:124350000-124378600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:124350000-124379400	Weak transcription	Fetal Kidney	kidney
30	chr8:124350200-124393400	Weak transcription	Small Intestine	intestine
31	chr8:124350200-124396400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr8:124350400-124382800	Weak transcription	Brain Anterior Caudate	brain
33	chr8:124361200-124384800	Strong transcription	K562	blood
34	chr8:124362000-124385800	Strong transcription	HepG2	liver
35	chr8:124363200-124384400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:124363400-124385600	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr8:124363800-124381000	Weak transcription	Fetal Heart	heart
38	chr8:124364200-124374600	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr8:124364200-124375800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:124364600-124374600	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:124364800-124377600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:124366400-124389400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:124367000-124377000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:124367000-124384200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:124367000-124385200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr8:124367000-124391800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:124367200-124384600	Strong transcription	Liver	Liver
48	chr8:124367200-124385400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:124367200-124390000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:124367600-124374800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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