Variant report

Variant	rs28491054
Chromosome Location	chr8:10217186-10217187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10215726..10218091-chr8:10220767..10222352,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10087341	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17151843	0.87[ASN][1000 genomes]
rs17151854	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17151859	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1986676	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28402777	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3812495	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4840480	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68071218	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6984111	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813873	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7841921	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1018940	chr8:10200886-10220973	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10193000-10235000	Weak transcription	Pancreas	Pancrea
3	chr8:10193600-10220400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:10196800-10228000	Weak transcription	Liver	Liver
5	chr8:10201800-10221800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:10204000-10219800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:10204400-10221800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:10206200-10222800	Weak transcription	Aorta	Aorta
9	chr8:10208400-10218200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:10208800-10220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:10209400-10220600	Weak transcription	Brain Angular Gyrus	brain
12	chr8:10210600-10218400	Weak transcription	Left Ventricle	heart
13	chr8:10210600-10220200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:10211200-10220000	Weak transcription	Right Atrium	heart
15	chr8:10213400-10217200	Weak transcription	Lung	lung
16	chr8:10213600-10217200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:10214400-10219400	Weak transcription	Spleen	Spleen
18	chr8:10214600-10217400	Weak transcription	Fetal Brain Female	brain
19	chr8:10214800-10219000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:10215200-10218400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr8:10215400-10217800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:10215800-10218800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:10216000-10217600	Weak transcription	Fetal Brain Male	brain
24	chr8:10216200-10220600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:10216400-10217400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:10216800-10217200	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr8:10216800-10217200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:10217000-10217200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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