Variant report

Variant	rs28653358
Chromosome Location	chr8:103877907-103877908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:103877280-103878370	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:103875053-103878061	K562	blood:	n/a	n/a
3	POLR2A	chr8:103875975-103878171	GM12891	blood:	n/a	n/a
4	WRNIP1	chr8:103877492-103878054	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:103876071-103878170	GM12878	blood:	n/a	n/a
6	GATA2	chr8:103877878-103878322	SH-SY5Y	brain:	n/a	n/a
7	SIN3AK20	chr8:103874449-103878043	MCF-7	breast:	n/a	n/a
8	POLR2A	chr8:103875968-103878456	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr8:103877835-103878112	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr8:103874237-103878385	SK-N-SH	brain:	n/a	n/a
11	MTA3	chr8:103876635-103878280	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:103875911-103878306	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr8:103875994-103878132	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr8:103874868-103878363	GM12892	blood:	n/a	n/a
15	POLR2A	chr8:103873647-103878981	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr8:103876072-103878182	K562	blood:	n/a	n/a
17	POLR2A	chr8:103876072-103878062	HepG2	liver:	n/a	n/a
18	POLR2A	chr8:103875860-103878126	GM12878	blood:	n/a	n/a
19	CHD1	chr8:103874255-103877941	H1-hESC	embryonic stem cell:	n/a	chr8:103875769-103875779 chr8:103876251-103876258 chr8:103875447-103875457

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103875223..103878430-chr8:103902326..103905508,3	K562	blood:
2	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
3	chr8:103422749..103426860-chr8:103874401..103878662,6	MCF-7	breast:
4	chr8:103874946..103878144-chr8:103904857..103910279,6	MCF-7	breast:
5	chr8:103845693..103863418-chr8:103873617..103879329,26	MCF-7	breast:
6	chr8:102216466..102219803-chr8:103875379..103878352,3	K562	blood:
7	chr8:103876345..103878103-chr8:104425943..104427544,2	K562	blood:
8	chr8:103874072..103879942-chr8:103913926..103921009,16	MCF-7	breast:
9	chr8:103873594..103879966-chr8:104029090..104036191,28	MCF-7	breast:
10	chr8:103875054..103878103-chr8:104425943..104429059,5	K562	blood:
11	chr8:103875112..103879316-chr8:103972204..103974673,4	MCF-7	breast:
12	chr8:103664543..103668719-chr8:103874742..103878936,8	MCF-7	breast:
13	chr8:103873381..103878542-chr8:103897806..103904719,11	MCF-7	breast:
14	chr8:103874643..103878099-chr8:104031324..104040310,20	MCF-7	breast:
15	chr8:103875112..103878223-chr8:103936319..103939684,4	K562	blood:
16	chr8:103873731..103878652-chr8:103915000..103924941,17	MCF-7	breast:
17	chr8:103875189..103878093-chr8:103942369..103944654,3	K562	blood:
18	chr7:100470857..100473840-chr8:103875332..103878147,2	K562	blood:
19	chr8:103877044..103878892-chr8:103894201..103897134,2	K562	blood:
20	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
21	chr6:37664126..37664626-chr8:103877139..103878079,2	HCT-116	colon:
22	chr8:103876310..103878750-chr8:103935739..103937868,3	MCF-7	breast:
23	chr8:103873561..103877987-chr8:104030387..104035295,15	K562	blood:
24	chr8:103874632..103878836-chr8:104074842..104078968,5	MCF-7	breast:

No data

Variant related genes	Relation type
AZIN1	TF binding region
ENSG00000155090	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000244052	Chromatin interaction
ENSG00000120963	Chromatin interaction
ENSG00000254236	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000253263	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000265898	Chromatin interaction
ENSG00000112139	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10097041	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10216659	0.83[AFR][1000 genomes]
rs13439806	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28711114	0.91[AFR][1000 genomes]
rs60308236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6994115	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73280794	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73282506	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7830587	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103872800-103878000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr8:103876200-103878200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:103876600-103878000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr8:103877000-103878000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:103877000-103878000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr8:103877000-103878000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:103877000-103878000	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr8:103877000-103878200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:103877000-103878200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:103877000-103878200	Flanking Active TSS	Dnd41	blood
11	chr8:103877000-103878200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr8:103877000-103880600	Weak transcription	Lung	lung
13	chr8:103877000-103906800	Weak transcription	Gastric	stomach
14	chr8:103877200-103878000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr8:103877200-103878000	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr8:103877200-103878000	Weak transcription	Esophagus	oesophagus
17	chr8:103877200-103878000	Flanking Active TSS	Fetal Brain Female	brain
18	chr8:103877200-103878000	Flanking Active TSS	HepG2	liver
19	chr8:103877200-103878200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:103877200-103878400	Enhancers	Left Ventricle	heart
21	chr8:103877200-103878800	Enhancers	Small Intestine	intestine
22	chr8:103877200-103879400	Enhancers	Placenta	Placenta
23	chr8:103877200-103880600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:103877200-103893200	Weak transcription	Pancreas	Pancrea
25	chr8:103877400-103878000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:103877400-103878000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:103877400-103878000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:103877400-103878000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr8:103877400-103878000	Enhancers	Primary T cells from cord blood	blood
30	chr8:103877400-103878000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:103877400-103878000	Flanking Active TSS	Liver	Liver
32	chr8:103877400-103878000	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr8:103877400-103878000	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr8:103877400-103878000	Flanking Active TSS	Fetal Brain Male	brain
35	chr8:103877400-103878000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr8:103877400-103878000	Flanking Active TSS	A549	lung
37	chr8:103877400-103878000	Flanking Active TSS	NHEK	skin
38	chr8:103877400-103878200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:103877400-103878200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr8:103877400-103878200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr8:103877400-103878200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr8:103877400-103878200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:103877400-103878600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:103877600-103878000	Enhancers	Primary B cells from cord blood	blood
45	chr8:103877600-103878000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr8:103877600-103878000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:103877600-103878000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr8:103877600-103878000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr8:103877600-103878200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:103877600-103878200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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