Variant report

Variant	rs530694299
Chromosome Location	chr12:8167524-8167525
allele	A/G
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	REST	chr12:8167226-8168040	HL-60	blood:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
2	REST	chr12:8167391-8167878	HL-60	blood:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
3	REST	chr12:8167466-8167858	A549	lung:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
4	REST	chr12:8167519-8167777	PANC-1	pancreas:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
5	REST	chr12:8167412-8167917	GM12878	blood:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
6	REST	chr12:8167457-8167836	HCT-116	colon:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
7	REST	chr12:8167408-8167808	PFSK-1	brain:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
8	REST	chr12:8167461-8167855	U87	brain:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
9	REST	chr12:8167520-8167726	HepG2	liver:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
10	REST	chr12:8167521-8167777	PFSK-1	brain:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
11	REST	chr12:8167501-8167810	SK-N-SH	brain:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
12	REST	chr12:8167423-8167858	H1-hESC	embryonic stem cell:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
13	REST	chr12:8167411-8167883	SK-N-SH	brain:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
14	REST	chr12:8167416-8167842	HCT-116	colon:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
15	REST	chr12:8167448-8167875	HepG2	liver:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
16	REST	chr12:8167411-8167859	PANC-1	pancreas:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
17	REST	chr12:8167515-8167729	GM12878	blood:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
18	REST	chr12:8167400-8167880	MCF-7	breast:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
19	TEAD4	chr12:8167436-8167822	A549	lung:	n/a	n/a
20	REST	chr12:8167421-8167855	U87	brain:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
21	ELF1	chr12:8167482-8167745	K562	blood:	n/a	n/a
22	REST	chr12:8167246-8168148	ECC-1	luminal epithelium:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
23	REST	chr12:8167376-8167952	MCF-7	breast:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
24	REST	chr12:8167468-8167896	Hela-S3	cervix:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
25	REST	chr12:8167336-8168028	PFSK-1	brain:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
26	REST	chr12:8167432-8167888	H1-hESC	embryonic stem cell:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
27	REST	chr12:8167515-8167780	K562	blood:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
28	REST	chr12:8167476-8167772	Hela-S3	cervix:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
29	REST	chr12:8167401-8167734	PANC-1	pancreas:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
30	REST	chr12:8167418-8167841	PANC-1	pancreas:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
31	REST	chr12:8167334-8167950	PFSK-1	brain:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
32	REST	chr12:8167511-8167868	K562	blood:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
33	UBTF	chr12:8167497-8167648	K562	blood:	n/a	n/a
34	REST	chr12:8167269-8168133	SK-N-SH	brain:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
35	REST	chr12:8167105-8168144	ECC-1	luminal epithelium:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
36	REST	chr12:8167502-8167828	HepG2	liver:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675
37	REST	chr12:8167269-8168066	A549	lung:	n/a	chr12:8167655-8167675 chr12:8167655-8167675 chr12:8167660-8167669 chr12:8167661-8167675

Variant related genes	Relation type
ENSG00000255964	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription 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 target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	nsv1054331	chr12:7924713-8183422	Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv1797934	chr12:7985460-8214261	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	esv1792916	chr12:8000336-8171838	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469082	chr12:8000336-8171838	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv469084	chr12:8000336-8171838	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv469085	chr12:8000336-8171838	Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv469086	chr12:8000336-8171838	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv557298	chr12:8000336-8171838	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
16	nsv541384	chr12:8003214-8188846	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
17	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
18	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
19	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
20	esv2751118	chr12:8017473-8190206	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
21	esv2754825	chr12:8024363-8167542	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
22	nsv869752	chr12:8026388-8174912	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
23	nsv898729	chr12:8044997-8190206	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
24	nsv1045521	chr12:8123225-8242846	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
25	nsv898732	chr12:8123306-8190206	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
26	nsv1044509	chr12:8130958-8182060	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
27	nsv973014	chr12:8166756-8171787	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8158800-8171200	Weak transcription	Gastric	stomach
2	chr12:8163600-8170800	Weak transcription	Fetal Thymus	thymus
3	chr12:8163800-8170200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:8165000-8169000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:8165800-8170800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:8166200-8170200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:8167200-8170200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:8167400-8167600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:8167400-8167600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:8167400-8167600	Bivalent Enhancer	NHEK	skin

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