Variant report

Variant	rs7973919
Chromosome Location	chr12:74416159-74416160
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	CTCF	chr12:74415518-74416173	SK-N-SH	brain:	n/a	chr12:74415803-74415821 chr12:74415805-74415826 chr12:74415804-74415820 chr12:74415808-74415816
2	CEBPB	chr12:74415769-74416185	HepG2	liver:	n/a	n/a
3	TEAD4	chr12:74415609-74416200	K562	blood:	n/a	n/a
4	RAD21	chr12:74415533-74416187	MCF-7	breast:	n/a	chr12:74415809-74415821 chr12:74415804-74415823 chr12:74415808-74415817
5	RFX5	chr12:74415977-74416240	K562	blood:	n/a	n/a
6	TBL1XR1	chr12:74415723-74416188	K562	blood:	n/a	n/a
7	JUND	chr12:74415614-74416190	K562	blood:	n/a	n/a
8	GATA2	chr12:74415678-74416165	K562	blood:	n/a	n/a
9	GATA1	chr12:74415631-74416269	PBDE	blood:	n/a	n/a
10	ARID3A	chr12:74415614-74416259	K562	blood:	n/a	n/a
11	CREB1	chr12:74415541-74416297	K562	blood:	n/a	n/a
12	EP300	chr12:74415893-74416200	K562	blood:	n/a	n/a
13	CCNT2	chr12:74415757-74416216	K562	blood:	n/a	n/a
14	NR2F2	chr12:74415727-74416209	K562	blood:	n/a	n/a
15	CTCF	chr12:74415506-74416245	A549	lung:	n/a	chr12:74415803-74415821 chr12:74415805-74415826 chr12:74415804-74415820 chr12:74415808-74415816
16	ATF1	chr12:74415634-74416199	K562	blood:	n/a	n/a
17	ZMIZ1	chr12:74415649-74416196	K562	blood:	n/a	n/a
18	CEBPD	chr12:74415693-74416181	K562	blood:	n/a	n/a
19	PML	chr12:74415731-74416205	K562	blood:	n/a	n/a
20	MAFK	chr12:74415542-74416173	K562	blood:	n/a	n/a
21	RAD21	chr12:74415481-74416178	HCT-116	colon:	n/a	chr12:74415809-74415821 chr12:74415804-74415823 chr12:74415808-74415817
22	CEBPB	chr12:74415624-74416265	K562	blood:	n/a	n/a
23	TRIM28	chr12:74415663-74416215	K562	blood:	n/a	n/a
24	CTCF	chr12:74415458-74416192	HCT-116	colon:	n/a	chr12:74415803-74415821 chr12:74415805-74415826 chr12:74415804-74415820 chr12:74415808-74415816
25	NR2F2	chr12:74415704-74416223	K562	blood:	n/a	n/a
26	EP300	chr12:74415665-74416225	K562	blood:	n/a	n/a
27	TAL1	chr12:74415653-74416289	K562	blood:	n/a	n/a
28	PML	chr12:74415701-74416179	K562	blood:	n/a	n/a
29	RAD21	chr12:74415542-74416196	A549	lung:	n/a	chr12:74415809-74415821 chr12:74415804-74415823 chr12:74415808-74415817
30	RCOR1	chr12:74415632-74416197	K562	blood:	n/a	n/a
31	CUX1	chr12:74415624-74416189	K562	blood:	n/a	n/a
32	CEBPB	chr12:74415768-74416234	K562	blood:	n/a	n/a
33	TEAD4	chr12:74415690-74416218	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:74415389..74416204-chr12:74806037..74807059,3	MCF-7	breast:
2	chr12:74415312..74416230-chr12:74710631..74711359,2	MCF-7	breast:
3	chr12:74415701..74416228-chr12:74504378..74504925,2	MCF-7	breast:
4	chr12:74415229..74416317-chr12:74501474..74502787,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264155	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10879723	0.85[ASN][1000 genomes]
rs11179844	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1516293	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4883498	0.81[AMR][1000 genomes]
rs7311068	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7969831	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037030	chr12:73898311-74656764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv541537	chr12:73898311-74656764	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv2755812	chr12:74110833-74557833	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv899280	chr12:74275190-74427611	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1051343	chr12:74299959-74423909	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1041875	chr12:74299959-74425449	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv899281	chr12:74302874-74427611	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv559390	chr12:74307540-74417793	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1037477	chr12:74309535-74416922	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1044954	chr12:74309535-74423909	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1047932	chr12:74309535-74425449	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv899282	chr12:74315252-74505531	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv469469	chr12:74355828-74505531	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv559391	chr12:74355828-74505531	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv899283	chr12:74360978-74609860	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74416000-74416200	Active TSS	A549	lung

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