Variant report

Variant	rs12051656
Chromosome Location	chr17:20771410-20771411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:20770775-20771615	K562	blood:	n/a	n/a
2	CBX3	chr17:20771289-20772187	K562	blood:	n/a	n/a
3	MAX	chr17:20771139-20771615	K562	blood:	n/a	n/a
4	POLR2A	chr17:20771273-20771681	K562	blood:	n/a	n/a
5	MYBL2	chr17:20771169-20772080	HepG2	liver:	n/a	n/a
6	EP300	chr17:20771315-20771530	HepG2	liver:	n/a	n/a
7	POLR2A	chr17:20770799-20771667	K562	blood:	n/a	n/a
8	EP300	chr17:20771327-20772060	K562	blood:	n/a	n/a
9	POLR2A	chr17:20771280-20772338	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr17:20771269-20771596	H1-neurons	neurons:	n/a	n/a
11	IRF1	chr17:20771398-20772101	K562	blood:	n/a	n/a
12	GTF2F1	chr17:20771147-20772038	K562	blood:	n/a	n/a
13	POLR2A	chr17:20771121-20771607	ECC-1	luminal epithelium:	n/a	n/a
14	MXI1	chr17:20771156-20772053	HepG2	liver:	n/a	n/a
15	POLR2A	chr17:20771283-20772154	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr17:20771327-20771581	H1-neurons	neurons:	n/a	n/a
17	BHLHE40	chr17:20771094-20771527	K562	blood:	n/a	n/a
18	POLR2A	chr17:20771179-20771573	HepG2	liver:	n/a	n/a
19	TBP	chr17:20771257-20772056	HepG2	liver:	n/a	n/a
20	HCFC1	chr17:20771375-20772064	K562	blood:	n/a	n/a
21	POLR2A	chr17:20771182-20772146	K562	blood:	n/a	n/a
22	HEY1	chr17:20770918-20772102	HepG2	liver:	n/a	n/a
23	NFYA	chr17:20771378-20772002	K562	blood:	n/a	chr17:20771604-20771622
24	REST	chr17:20771256-20771626	HepG2	liver:	n/a	n/a
25	SP1	chr17:20771344-20772043	HepG2	liver:	n/a	n/a
26	NR2F2	chr17:20771151-20772065	K562	blood:	n/a	n/a
27	POLR2A	chr17:20771187-20772092	HepG2	liver:	n/a	n/a
28	POLR2A	chr17:20771276-20772143	K562	blood:	n/a	n/a
29	RCOR1	chr17:20771308-20771540	HepG2	liver:	n/a	n/a
30	SP1	chr17:20771366-20772089	K562	blood:	n/a	n/a
31	TAF1	chr17:20771261-20772476	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr17:20771020-20771584	HepG2	liver:	n/a	n/a
33	ZMIZ1	chr17:20771323-20772046	K562	blood:	n/a	n/a
34	RDBP	chr17:20771286-20772096	K562	blood:	n/a	n/a
35	IRF1	chr17:20771329-20772167	K562	blood:	n/a	n/a
36	UBTF	chr17:20770958-20771528	K562	blood:	n/a	n/a
37	POLR2A	chr17:20771161-20772078	HepG2	liver:	n/a	n/a
38	TBL1XR1	chr17:20771054-20772147	K562	blood:	n/a	n/a
39	MXI1	chr17:20771296-20772008	K562	blood:	n/a	n/a
40	TBP	chr17:20771267-20772059	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr17:20771095-20771650	HepG2	liver:	n/a	n/a
42	ATF1	chr17:20771215-20771847	K562	blood:	n/a	n/a
43	POLR2A	chr17:20771148-20771606	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUND	chr17:20771321-20772024	K562	blood:	n/a	n/a
45	TAF7	chr17:20771399-20771551	K562	blood:	n/a	n/a
46	ZNF143	chr17:20771288-20772046	K562	blood:	n/a	n/a
47	NFYB	chr17:20771304-20772066	K562	blood:	n/a	n/a
48	CEBPB	chr17:20771375-20771995	K562	blood:	n/a	n/a
49	CHD2	chr17:20771264-20772113	K562	blood:	n/a	n/a
50	MXI1	chr17:20771316-20772889	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20771377-20771427	HL-60	blood:	n/a
2	chr17:20771377-20771427	HCM	heart:	n/a
3	chr17:20771377-20771427	Jurkat	blood:	n/a
4	chr17:20771377-20771427	Hepatocyte	liver:	n/a
5	chr17:20771377-20771427	HRCEpiC	kidney:	n/a
6	chr17:20771377-20771427	HCF	heart:	n/a
7	chr17:20771377-20771427	HMEC	breast:	n/a
8	chr17:20771377-20771427	GM12878	blood:	n/a
9	chr17:20771377-20771427	AG04449	skin:	fetal
10	chr17:20771377-20771427	PFSK-1	brain:	n/a
11	chr17:20771377-20771427	HCT-116	colon:	n/a
12	chr17:20771377-20771427	SKMC	muscle:	n/a
13	chr17:20771377-20771427	AG10803	skin:	n/a
14	chr17:20771377-20771427	HUVEC	blood vessel:	n/a
15	chr17:20771377-20771427	NT2-D1	testis:	n/a
16	chr17:20771377-20771427	AG04450	lung:	fetal
17	chr17:20771377-20771427	HNPCEpiC	eye:	n/a
18	chr17:20771377-20771427	BJ	skin:	n/a
19	chr17:20771377-20771427	LNCaP	prostate:	n/a
20	chr17:20771377-20771427	U87	brain:	n/a
21	chr17:20771377-20771427	AoSMC	blood vessel:	n/a
22	chr17:20771377-20771427	HIPEpiC	eye:	n/a
23	chr17:20771377-20771427	GM12892	blood:	n/a
24	chr17:20771377-20771427	Hela-S3	cervix:	n/a
25	chr17:20771377-20771427	T-47D	breast:	n/a
26	chr17:20771377-20771427	NH-A	brain:	n/a
27	chr17:20771377-20771427	MCF-7	breast:	n/a
28	chr17:20771377-20771427	SAEC	small airway:	n/a
29	chr17:20771377-20771427	ovcar-3	ovarian:	n/a
30	chr17:20771377-20771427	SK-N-SH_RA	brain:	n/a
31	chr17:20771377-20771427	GM06990	blood:	n/a
32	chr17:20771377-20771427	HCPEpiC	choroid plexus:	n/a
33	chr17:20771377-20771427	HEK293	kidney:	embryo
34	chr17:20771377-20771427	Caco-2	colon:	n/a
35	chr17:20771377-20771427	SK-N-SH	brain:	n/a
36	chr17:20771377-20771427	HAEpiC	amniotic membrane:	n/a
37	chr17:20771377-20771427	NHDF-neo	bronchial:	n/a
38	chr17:20771377-20771427	PANC-1	pancreas:	n/a
39	chr17:20771377-20771427	H1-hESC	embryonic stem cell:	embryo
40	chr17:20771377-20771427	PrEC	prostate:	n/a
41	chr17:20771377-20771427	HepG2	liver:	n/a
42	chr17:20771377-20771427	ECC-1	luminal epithelium:	n/a
43	chr17:20771377-20771427	HRE	kidney:	n/a
44	chr17:20771377-20771427	IMR90	lung:	fetal
45	chr17:20771377-20771427	MCF10A-Er-Src	breast:	n/a
46	chr17:20771377-20771427	ProgFib	skin:	n/a
47	chr17:20771377-20771427	HEEpiC	esophagus:	n/a
48	chr17:20771377-20771427	BE2_C	brain:	n/a
49	chr17:20771377-20771427	A549	lung:	n/a
50	chr17:20771377-20771427	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20769754..20771503-chr17:25415743..25417258,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233098	TF binding region
ENSG00000233098	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11204322	0.83[CEU][hapmap]
rs11654643	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11869464	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17841430	0.84[CEU][hapmap]
rs4264447	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7502919	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv3361931	chr17:20539962-20845258	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv3330516	chr17:20572433-20862663	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription 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	23 gene(s)	inside rSNPs	diseases
5	nsv1066490	chr17:20732646-20786993	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv960439	chr17:20733458-20799926	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1057238	chr17:20734623-20786993	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv1057410	chr17:20736492-20782474	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1064007	chr17:20736492-20785902	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv1065163	chr17:20736890-20778317	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv1067482	chr17:20737431-20782474	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv3316000	chr17:20770368-20771805	Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3316001	chr17:20770384-20771800	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv20326	chr17:20770633-20773328	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20769400-20778000	Active TSS	K562	blood
2	chr17:20770200-20772200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:20770800-20771800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr17:20771000-20772200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr17:20771000-20773000	Bivalent/Poised TSS	HepG2	liver
6	chr17:20771200-20771600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr17:20771200-20771800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:20771200-20773600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:20771200-20774000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:20771200-20774200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr17:20771200-20774800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr17:20771200-20775200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:20771400-20772000	Weak transcription	Pancreas	Pancrea
14	chr17:20771400-20774600	Active TSS	iPS-18 Cell Line	embryonic stem cell

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