Variant report

Variant	rs72686930
Chromosome Location	chr8:103878184-103878185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:103878045-103878253	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr8:103877280-103878370	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:103877953-103878224	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA2	chr8:103877878-103878322	SH-SY5Y	brain:	n/a	n/a
5	POLR2A	chr8:103875968-103878456	PANC-1	pancreas:	n/a	n/a
6	MXI1	chr8:103874237-103878385	SK-N-SH	brain:	n/a	n/a
7	MTA3	chr8:103876635-103878280	GM12878	blood:	n/a	n/a
8	POLR2A	chr8:103875911-103878306	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr8:103874868-103878363	GM12892	blood:	n/a	n/a
10	GATA3	chr8:103877924-103878220	T-47D	breast:	n/a	n/a
11	POLR2A	chr8:103873647-103878981	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:16 , 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	chr8:103845693..103863418-chr8:103873617..103879329,26	MCF-7	breast:
5	chr8:102216466..102219803-chr8:103875379..103878352,3	K562	blood:
6	chr8:103874072..103879942-chr8:103913926..103921009,16	MCF-7	breast:
7	chr8:103873594..103879966-chr8:104029090..104036191,28	MCF-7	breast:
8	chr8:103875112..103879316-chr8:103972204..103974673,4	MCF-7	breast:
9	chr8:103664543..103668719-chr8:103874742..103878936,8	MCF-7	breast:
10	chr8:103873381..103878542-chr8:103897806..103904719,11	MCF-7	breast:
11	chr8:103875112..103878223-chr8:103936319..103939684,4	K562	blood:
12	chr8:103873731..103878652-chr8:103915000..103924941,17	MCF-7	breast:
13	chr8:103877044..103878892-chr8:103894201..103897134,2	K562	blood:
14	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
15	chr8:103876310..103878750-chr8:103935739..103937868,3	MCF-7	breast:
16	chr8:103874632..103878836-chr8:104074842..104078968,5	MCF-7	breast:

No data

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

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1062365	0.86[EUR][1000 genomes]
rs3758091	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808542	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60470921	1.00[EUR][1000 genomes]
rs72667203	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667204	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667206	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667212	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667217	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667221	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667222	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667223	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667224	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667225	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667226	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667231	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667244	0.89[EUR][1000 genomes]
rs72667245	0.82[EUR][1000 genomes]
rs72686912	0.86[EUR][1000 genomes]
rs72686914	0.86[EUR][1000 genomes]
rs72686917	0.91[EUR][1000 genomes]
rs72686931	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686932	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686935	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103876200-103878200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:103877000-103878200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:103877000-103878200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:103877000-103878200	Flanking Active TSS	Dnd41	blood
5	chr8:103877000-103878200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr8:103877000-103880600	Weak transcription	Lung	lung
7	chr8:103877000-103906800	Weak transcription	Gastric	stomach
8	chr8:103877200-103878200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:103877200-103878400	Enhancers	Left Ventricle	heart
10	chr8:103877200-103878800	Enhancers	Small Intestine	intestine
11	chr8:103877200-103879400	Enhancers	Placenta	Placenta
12	chr8:103877200-103880600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:103877200-103893200	Weak transcription	Pancreas	Pancrea
14	chr8:103877400-103878200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:103877400-103878200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr8:103877400-103878200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:103877400-103878200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr8:103877400-103878200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:103877400-103878600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:103877600-103878200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:103877600-103878200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:103877600-103878200	Enhancers	Adipose Nuclei	Adipose
23	chr8:103877600-103878200	Enhancers	Brain Cingulate Gyrus	brain
24	chr8:103877600-103878200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:103877600-103878200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:103877600-103878200	Enhancers	Fetal Muscle Leg	muscle
27	chr8:103877600-103878200	Enhancers	Thymus	Thymus
28	chr8:103877600-103878200	Weak transcription	Spleen	Spleen
29	chr8:103877600-103878200	Enhancers	Hela-S3	cervix
30	chr8:103877600-103878200	Flanking Active TSS	K562	blood
31	chr8:103877600-103878200	Enhancers	NHDF-Ad	bronchial
32	chr8:103877600-103878400	Enhancers	Fetal Thymus	thymus
33	chr8:103877600-103878400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr8:103877600-103878400	Flanking Active TSS	GM12878-XiMat	blood
35	chr8:103877600-103878600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr8:103877600-103879600	Weak transcription	Right Atrium	heart
37	chr8:103877600-103884200	Weak transcription	Aorta	Aorta
38	chr8:103877800-103878200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr8:103877800-103878200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
40	chr8:103877800-103878200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr8:103877800-103878200	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr8:103877800-103878200	Enhancers	Fetal Kidney	kidney
43	chr8:103877800-103878200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr8:103877800-103878200	Enhancers	Ovary	ovary
45	chr8:103877800-103878200	Enhancers	HSMM	muscle
46	chr8:103877800-103878400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:103877800-103878400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:103877800-103878400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:103877800-103878600	Enhancers	Fetal Heart	heart
50	chr8:103877800-103878800	Enhancers	Fetal Intestine Large	intestine

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