Variant report

Variant	rs7464660
Chromosome Location	chr8:125828005-125828006
allele	A/C
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	PML	chr8:125827265-125828373	K562	blood:	n/a	n/a
2	ZBTB33	chr8:125827512-125828166	K562	blood:	n/a	n/a
3	ZBTB33	chr8:125827662-125828019	K562	blood:	n/a	n/a
4	MEF2A	chr8:125827478-125828146	K562	blood:	n/a	chr8:125827875-125827892 chr8:125827878-125827889 chr8:125827875-125827890 chr8:125827872-125827893 chr8:125827877-125827892 chr8:125827876-125827891 chr8:125827879-125827890 chr8:125827879-125827888 chr8:125827872-125827893 chr8:125827876-125827892 chr8:125827877-125827891 chr8:125827877-125827892
5	GTF2F1	chr8:125827494-125828195	K562	blood:	n/a	n/a
6	NR2F2	chr8:125827475-125828243	K562	blood:	n/a	n/a
7	CEBPB	chr8:125827720-125828097	K562	blood:	n/a	n/a
8	HCFC1	chr8:125827559-125828135	K562	blood:	n/a	n/a
9	EP300	chr8:125827677-125828147	K562	blood:	n/a	n/a
10	TBL1XR1	chr8:125827320-125828136	K562	blood:	n/a	n/a
11	USF2	chr8:125827301-125828081	K562	blood:	n/a	n/a
12	CTCF	chr8:125827880-125828030	HPF	lung:	n/a	n/a
13	CTCF	chr8:125827940-125828090	AG10803	skin:	n/a	n/a
14	TRIM28	chr8:125827602-125828092	K562	blood:	n/a	n/a
15	RCOR1	chr8:125827580-125828129	K562	blood:	n/a	n/a
16	POLR2A	chr8:125827315-125828208	K562	blood:	n/a	n/a
17	SP1	chr8:125827588-125828109	K562	blood:	n/a	n/a
18	POLR2A	chr8:125826947-125828304	U87	brain:	n/a	n/a
19	CHD2	chr8:125827198-125828092	K562	blood:	n/a	n/a
20	POLR2A	chr8:125827213-125828221	K562	blood:	n/a	n/a
21	CEBPB	chr8:125827758-125828092	IMR90	lung:	n/a	n/a
22	TBP	chr8:125827897-125828178	HepG2	liver:	n/a	n/a
23	TBL1XR1	chr8:125827210-125828115	K562	blood:	n/a	n/a
24	POLR2A	chr8:125827777-125828065	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr8:125827676-125828017	PANC-1	pancreas:	n/a	n/a
26	TAF7	chr8:125827266-125828218	K562	blood:	n/a	n/a
27	POLR2A	chr8:125827815-125828086	H1-hESC	embryonic stem cell:	n/a	n/a
28	EGR1	chr8:125827583-125828095	K562	blood:	n/a	n/a
29	ZNF143	chr8:125827533-125828007	K562	blood:	n/a	n/a
30	EGR1	chr8:125827610-125828144	K562	blood:	n/a	n/a
31	CTCF	chr8:125827920-125828070	NHDF-neo	bronchial:	n/a	n/a
32	MAZ	chr8:125827571-125828169	K562	blood:	n/a	n/a
33	MEF2A	chr8:125827329-125828083	K562	blood:	n/a	chr8:125827875-125827892 chr8:125827878-125827889 chr8:125827875-125827890 chr8:125827872-125827893 chr8:125827877-125827892 chr8:125827876-125827891 chr8:125827879-125827890 chr8:125827879-125827888 chr8:125827872-125827893 chr8:125827876-125827892 chr8:125827877-125827891 chr8:125827877-125827892
34	JUND	chr8:125827104-125828052	K562	blood:	n/a	n/a
35	SIN3AK20	chr8:125827557-125828063	K562	blood:	n/a	n/a
36	POLR2A	chr8:125827390-125828216	K562	blood:	n/a	n/a
37	POLR2A	chr8:125827145-125828169	K562	blood:	n/a	n/a
38	CTCF	chr8:125827860-125828010	HCPEpiC	choroid plexus:	n/a	n/a
39	POLR2A	chr8:125827137-125828180	K562	blood:	n/a	n/a
40	STAT5A	chr8:125827294-125828155	K562	blood:	n/a	chr8:125827548-125827557 chr8:125827545-125827559 chr8:125827547-125827556
41	TAL1	chr8:125827051-125828122	K562	blood:	n/a	n/a
42	CBX3	chr8:125827144-125828366	K562	blood:	n/a	n/a
43	PML	chr8:125827164-125828343	K562	blood:	n/a	n/a
44	RCOR1	chr8:125827640-125828163	K562	blood:	n/a	n/a
45	MXI1	chr8:125827259-125828077	K562	blood:	n/a	n/a
46	TAF7	chr8:125827685-125828155	H1-hESC	embryonic stem cell:	n/a	n/a
47	GTF2B	chr8:125827592-125828202	K562	blood:	n/a	n/a
48	SIN3AK20	chr8:125827602-125828005	K562	blood:	n/a	n/a
49	TBP	chr8:125827159-125828258	K562	blood:	n/a	n/a
50	ATF1	chr8:125827384-125828105	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:125826373..125828748-chr8:126103559..126105908,3	K562	blood:
2	chr8:125827679..125829366-chr8:126009547..126011817,2	K562	blood:
3	chr8:125548570..125552806-chr8:125825742..125828762,4	K562	blood:
4	chr8:125549492..125551989-chr8:125824960..125829256,5	K562	blood:
5	chr8:125825851..125829198-chr8:125950064..125952936,3	K562	blood:
6	chr8:125827545..125829376-chr8:125954990..125957795,2	K562	blood:
7	chr8:125575430..125576994-chr8:125827635..125829466,2	K562	blood:
8	chr8:125825929..125828748-chr8:126103559..126105908,4	K562	blood:
9	chr8:125826381..125829374-chr8:125860039..125861622,2	K562	blood:
10	chr8:125825718..125829730-chr8:126008807..126013107,8	K562	blood:

Variant related genes	Relation type
ENSG00000255491	TF binding region
ENSG00000249816	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000255313	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000253513	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16900004	1.00[CEU][hapmap]
rs6997272	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7002198	1.00[CEU][hapmap]
rs7003427	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73340152	1.00[EUR][1000 genomes]
rs73349127	1.00[EUR][1000 genomes]
rs73349160	1.00[EUR][1000 genomes]
rs73349175	1.00[EUR][1000 genomes]
rs7461335	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7829412	1.00[CEU][hapmap]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125826200-125828400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:125826400-125828800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:125827000-125828600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:125827000-125828800	Enhancers	Fetal Lung	lung
5	chr8:125827200-125828200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:125827200-125828600	Enhancers	Brain Substantia Nigra	brain
7	chr8:125827200-125828600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:125827200-125828600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr8:125827200-125828600	Enhancers	HepG2	liver
10	chr8:125827200-125828800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:125827200-125829800	Enhancers	Fetal Muscle Leg	muscle
12	chr8:125827400-125828200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:125827400-125828200	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr8:125827400-125828200	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr8:125827400-125828200	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr8:125827400-125828200	Enhancers	NHEK	skin
17	chr8:125827400-125828400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:125827400-125828400	Enhancers	Liver	Liver
19	chr8:125827400-125828400	Weak transcription	Placenta	Placenta
20	chr8:125827400-125828400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr8:125827400-125828400	Flanking Active TSS	NHDF-Ad	bronchial
22	chr8:125827400-125828600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:125827600-125828200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:125827600-125828200	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr8:125827600-125828200	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr8:125827600-125828200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr8:125827600-125828200	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr8:125827600-125828400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr8:125827600-125828400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:125827600-125828400	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr8:125827600-125828600	Enhancers	Psoas Muscle	Psoas
32	chr8:125827600-125828600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr8:125827600-125828800	Enhancers	Left Ventricle	heart
34	chr8:125827800-125828200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:125827800-125828200	Enhancers	Ovary	ovary
36	chr8:125827800-125828200	Weak transcription	Right Ventricle	heart
37	chr8:125827800-125828200	Active TSS	HSMMtube	muscle
38	chr8:125827800-125828400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:125827800-125828400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:125827800-125828400	Weak transcription	Fetal Brain Female	brain
41	chr8:125827800-125828600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:125827800-125828600	Enhancers	Fetal Brain Male	brain
43	chr8:125827800-125828600	Enhancers	Right Atrium	heart
44	chr8:125827800-125828600	Enhancers	HSMM	muscle
45	chr8:125827800-125828600	Enhancers	NHLF	lung
46	chr8:125827800-125829600	Enhancers	Fetal Heart	heart
47	chr8:125827800-125829800	Enhancers	K562	blood
48	chr8:125828000-125828200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:125828000-125828600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr8:125828000-125828600	Enhancers	Muscle Satellite Cultured Cells	--

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