Variant report

Variant	rs11972275
Chromosome Location	chr7:153110064-153110065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr7:153109774-153111572	K562	blood:	n/a	n/a
2	UBTF	chr7:153109714-153111156	K562	blood:	n/a	n/a
3	NR2F2	chr7:153109141-153110241	K562	blood:	n/a	n/a
4	YY1	chr7:153109766-153110139	H1-hESC	embryonic stem cell:	n/a	chr7:153109966-153109978 chr7:153109908-153109920 chr7:153109939-153109951
5	BCL3	chr7:153109499-153110250	K562	blood:	n/a	n/a
6	MYC	chr7:153109738-153111359	K562	blood:	n/a	n/a
7	STAT5A	chr7:153109549-153111313	K562	blood:	n/a	n/a
8	CBX3	chr7:153109631-153111793	K562	blood:	n/a	n/a
9	BCLAF1	chr7:153107687-153111130	K562	blood:	n/a	n/a
10	POLR2A	chr7:153109094-153111262	K562	blood:	n/a	n/a
11	CTCF	chr7:153109752-153110884	K562	blood:	n/a	n/a
12	PML	chr7:153099702-153111270	K562	blood:	n/a	n/a
13	SMC3	chr7:153109904-153110492	K562	blood:	n/a	n/a
14	EP300	chr7:153109780-153112049	K562	blood:	n/a	n/a
15	MAZ	chr7:153109075-153112076	K562	blood:	n/a	n/a
16	IRF1	chr7:153109663-153111639	K562	blood:	n/a	n/a
17	CUX1	chr7:153109753-153112221	K562	blood:	n/a	n/a
18	CEBPB	chr7:153109639-153110206	K562	blood:	n/a	n/a
19	E2F4	chr7:153109753-153111582	K562	blood:	n/a	n/a
20	HEY1	chr7:153106358-153111237	K562	blood:	n/a	n/a
21	MYC	chr7:153109743-153111394	K562	blood:	n/a	n/a
22	NR2F2	chr7:153109468-153111493	K562	blood:	n/a	n/a
23	ELK1	chr7:153109630-153110897	K562	blood:	n/a	n/a
24	TAF7	chr7:153109858-153110092	K562	blood:	n/a	n/a
25	SIN3AK20	chr7:153109706-153110094	K562	blood:	n/a	n/a
26	TBP	chr7:153109098-153111653	K562	blood:	n/a	n/a
27	MAX	chr7:153109730-153111278	K562	blood:	n/a	n/a
28	RCOR1	chr7:153109089-153111415	K562	blood:	n/a	n/a
29	YY1	chr7:153109081-153111497	K562	blood:	n/a	chr7:153109966-153109978 chr7:153109908-153109920 chr7:153109939-153109951
30	KAP1	chr7:153109691-153110288	K562	blood:	n/a	n/a
31	IRF1	chr7:153109672-153111747	K562	blood:	n/a	n/a
32	PML	chr7:153109606-153111406	K562	blood:	n/a	n/a
33	ELF1	chr7:153109671-153110178	K562	blood:	n/a	chr7:153109955-153109968
34	REST	chr7:153109738-153110136	K562	blood:	n/a	n/a
35	UBTF	chr7:153109760-153110168	K562	blood:	n/a	n/a
36	POLR2A	chr7:153106565-153111352	K562	blood:	n/a	n/a
37	TAL1	chr7:153107838-153111161	K562	blood:	n/a	n/a
38	TEAD4	chr7:153109510-153111324	K562	blood:	n/a	n/a
39	TAF1	chr7:153109613-153111200	K562	blood:	n/a	n/a
40	TAF1	chr7:153109626-153111291	K562	blood:	n/a	n/a
41	MAFF	chr7:153109883-153113092	K562	blood:	n/a	chr7:153111170-153111188
42	TEAD4	chr7:153107711-153111655	K562	blood:	n/a	n/a
43	JUN	chr7:153109841-153111961	K562	blood:	n/a	n/a
44	EP300	chr7:153109746-153110212	GM12878	blood:	n/a	n/a
45	ZNF143	chr7:153109737-153110127	K562	blood:	n/a	n/a
46	MXI1	chr7:153109778-153111630	K562	blood:	n/a	n/a
47	ZNF384	chr7:153109733-153110148	K562	blood:	n/a	n/a
48	YY1	chr7:153109752-153110108	H1-hESC	embryonic stem cell:	n/a	chr7:153109966-153109978 chr7:153109908-153109920 chr7:153109939-153109951
49	MYC	chr7:153109127-153112213	K562	blood:	n/a	n/a
50	POLR2A	chr7:153106387-153111222	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:64297147..64300786-chr7:153106859..153112225,9	K562	blood:
2	chr7:64297147..64300763-chr7:153106859..153112373,8	K562	blood:
3	chr7:64299266..64299795-chr7:153109659..153110240,2	K562	blood:
4	chr1:113496225..113498697-chr7:153107803..153110252,2	K562	blood:
5	chr7:152160161..152162874-chr7:153109419..153112345,3	K562	blood:
6	chr2:84104828..84106331-chr7:153109556..153111137,2	K562	blood:
7	chr2:84103331..84106345-chr7:153106704..153111137,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234722	TF binding region
ENSG00000236198	Chromatin interaction
ENSG00000155380	Chromatin interaction
ENSG00000223700	Chromatin interaction
ENSG00000234338	Chromatin interaction
ENSG00000261455	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1867488	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56322509	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532222	chr7:152504090-153450290	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1034277	chr7:152932263-153526276	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1023927	chr7:152938365-153526276	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv609072	chr7:152942680-153527304	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1028109	chr7:152945148-153526276	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1034036	chr7:152954795-153379878	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv539211	chr7:152954795-153379878	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1032443	chr7:152988419-153450150	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv539212	chr7:152988419-153450150	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2758141	chr7:153001173-153298779	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv2759576	chr7:153001173-153298779	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv889510	chr7:153050837-153413046	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv889511	chr7:153076838-153201572	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv889512	chr7:153088772-153662151	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	esv16065	chr7:153106266-153111170	Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:153110000-153111000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:153110000-153111400	Active TSS	K562	blood

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