Variant report

Variant	rs7004064
Chromosome Location	chr8:6506463-6506464
allele	C/G/T
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	JUND	chr8:6506353-6507088	HepG2	liver:	n/a	n/a
2	MAX	chr8:6506121-6507326	HCT-116	colon:	n/a	n/a
3	ATF3	chr8:6506162-6507323	HCT-116	colon:	n/a	n/a
4	MAX	chr8:6506461-6506463	Hela-S3	cervix:	n/a	n/a
5	STAT5A	chr8:6506354-6507087	GM12878	blood:	n/a	n/a
6	JUN	chr8:6505656-6507224	K562	blood:	n/a	n/a
7	SIN3AK20	chr8:6506111-6507320	HCT-116	colon:	n/a	n/a
8	USF2	chr8:6506271-6507223	Hela-S3	cervix:	n/a	chr8:6506788-6506799
9	STAT3	chr8:6506425-6507045	MCF10A-Er-Src	breast:	n/a	n/a
10	MAFF	chr8:6506387-6507068	HepG2	liver:	n/a	n/a
11	USF1	chr8:6506164-6507367	HCT-116	colon:	n/a	chr8:6506692-6506703 chr8:6506721-6506732
12	NFIC	chr8:6506277-6507076	GM12878	blood:	n/a	n/a
13	JUND	chr8:6506386-6507096	Hela-S3	cervix:	n/a	n/a
14	SRF	chr8:6506170-6507303	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chr8:6506392-6506906	Hela-S3	cervix:	n/a	n/a
16	JUN	chr8:6506307-6507172	HepG2	liver:	n/a	n/a
17	NFATC1	chr8:6506256-6507164	GM12878	blood:	n/a	n/a
18	FOS	chr8:6506272-6507168	MCF10A-Er-Src	breast:	n/a	n/a
19	USF1	chr8:6506050-6507360	HCT-116	colon:	n/a	chr8:6506692-6506703 chr8:6506721-6506732
20	POLR2A	chr8:6506338-6507074	U87	brain:	n/a	n/a
21	FOSL1	chr8:6506101-6507359	HCT-116	colon:	n/a	n/a
22	SP1	chr8:6506021-6507405	HCT-116	colon:	n/a	n/a
23	TCF3	chr8:6506412-6506621	GM12878	blood:	n/a	n/a
24	SP1	chr8:6505951-6507446	HCT-116	colon:	n/a	n/a
25	TCF12	chr8:6506130-6507255	ECC-1	luminal epithelium:	n/a	n/a
26	EP300	chr8:6506023-6507396	ECC-1	luminal epithelium:	n/a	chr8:6507363-6507373 chr8:6507312-6507321
27	FOS	chr8:6506280-6507149	MCF10A-Er-Src	breast:	n/a	n/a
28	JUN	chr8:6506457-6507004	K562	blood:	n/a	n/a
29	CBX3	chr8:6505961-6507308	HCT-116	colon:	n/a	n/a
30	FOSL2	chr8:6506190-6507199	HepG2	liver:	n/a	chr8:6506705-6506716 chr8:6506676-6506687 chr8:6506657-6506668
31	ATF3	chr8:6506143-6507310	HCT-116	colon:	n/a	n/a
32	SETDB1	chr8:6506011-6506947	U2OS	brain:	n/a	n/a
33	ZBTB33	chr8:6506248-6507212	HCT-116	colon:	n/a	n/a
34	JUN	chr8:6506293-6507086	K562	blood:	n/a	n/a
35	FOS	chr8:6506234-6507215	MCF10A-Er-Src	breast:	n/a	n/a
36	GABPA	chr8:6506293-6507087	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr8:6506354-6507168	ECC-1	luminal epithelium:	n/a	n/a
38	JUN	chr8:6506331-6507097	Hela-S3	cervix:	n/a	n/a
39	SIN3AK20	chr8:6506088-6507196	HCT-116	colon:	n/a	n/a
40	NR3C1	chr8:6506337-6506932	A549	lung:	n/a	n/a
41	POLR2A	chr8:6506432-6506922	H1-hESC	embryonic stem cell:	n/a	n/a
42	TCF12	chr8:6506113-6507391	ECC-1	luminal epithelium:	n/a	chr8:6507363-6507372
43	SRF	chr8:6506354-6507161	ECC-1	luminal epithelium:	n/a	n/a
44	FOSL2	chr8:6506456-6506968	SK-N-SH	brain:	n/a	chr8:6506705-6506716 chr8:6506676-6506687 chr8:6506657-6506668
45	MAFK	chr8:6506447-6506982	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr8:6506232-6507169	GM12878	blood:	n/a	n/a
47	SRF	chr8:6506106-6507329	HCT-116	colon:	n/a	n/a
48	FOS	chr8:6506301-6507098	MCF10A-Er-Src	breast:	n/a	n/a
49	MAFK	chr8:6506421-6506981	H1-hESC	embryonic stem cell:	n/a	n/a
50	JUN	chr8:6506419-6506970	HUVEC	blood vessel:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MCPH1-2	chr8:6506319-6506990	NONHSAT124781

Variant related genes	Relation type
ENSG00000249898	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4840522	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' 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	40 gene(s)	inside rSNPs	diseases
3	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
4	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
12	nsv1025976	chr8:6472948-6686972	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
13	nsv933768	chr8:6482944-6618221	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv610005	chr8:6490665-6535690	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1024024	chr8:6490665-6555558	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv890059	chr8:6498174-6554615	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv524670	chr8:6500544-6539987	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6480200-6523800	Weak transcription	Fetal Brain Female	brain
2	chr8:6500800-6508000	Weak transcription	Fetal Heart	heart
3	chr8:6502200-6518000	Weak transcription	Right Atrium	heart
4	chr8:6502800-6507000	Weak transcription	Thymus	Thymus
5	chr8:6503000-6518800	Weak transcription	Brain Substantia Nigra	brain
6	chr8:6503200-6524400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:6505800-6509800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:6505800-6519000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:6506000-6506600	Enhancers	NHDF-Ad	bronchial
10	chr8:6506200-6507600	Weak transcription	Placenta	Placenta
11	chr8:6506400-6506600	ZNF genes & repeats	Primary T cells from cord blood	blood

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