Variant report

Variant	rs72549131
Chromosome Location	chr10:5132447-5132448
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr10:5131968-5132529	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOXA2	chr10:5131909-5132540	A549	lung:	n/a	n/a
3	EP300	chr10:5131800-5132627	A549	lung:	n/a	n/a
4	CTCF	chr10:5132119-5132541	MCF-7	breast:	n/a	n/a
5	CTCF	chr10:5132340-5132490	HCM	heart:	n/a	n/a
6	CEBPB	chr10:5131998-5132475	A549	lung:	n/a	n/a
7	CTCF	chr10:5132043-5132450	HepG2	liver:	n/a	n/a
8	CEBPB	chr10:5131899-5132509	A549	lung:	n/a	n/a
9	SMC3	chr10:5132057-5132462	HepG2	liver:	n/a	n/a
10	RAD21	chr10:5132082-5132480	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr10:5131968-5132511	A549	lung:	n/a	n/a
12	REST	chr10:5131932-5132540	A549	lung:	n/a	n/a
13	CTCF	chr10:5132440-5132590	AG09309	skin:	n/a	n/a
14	SP1	chr10:5131900-5132582	A549	lung:	n/a	n/a
15	FOXA1	chr10:5132098-5132548	HepG2	liver:	n/a	n/a
16	CTCF	chr10:5132420-5132570	GM12868	blood:	n/a	n/a
17	MAX	chr10:5131893-5133121	A549	lung:	n/a	n/a
18	RAD21	chr10:5131959-5132456	HCT-116	colon:	n/a	n/a
19	TCF12	chr10:5131823-5132647	A549	lung:	n/a	n/a
20	RAD21	chr10:5132059-5132470	H1-hESC	embryonic stem cell:	n/a	n/a
21	FOXA2	chr10:5132027-5132483	HepG2	liver:	n/a	n/a
22	CTCF	chr10:5132051-5132463	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr10:5132016-5132455	ECC-1	luminal epithelium:	n/a	n/a
24	RAD21	chr10:5132033-5132507	A549	lung:	n/a	n/a
25	SP1	chr10:5131958-5132598	A549	lung:	n/a	n/a
26	FOXA1	chr10:5132058-5132475	HepG2	liver:	n/a	n/a
27	CTCF	chr10:5131925-5132523	MCF-7	breast:	n/a	n/a
28	RAD21	chr10:5131894-5132563	MCF-7	breast:	n/a	n/a
29	CTCF	chr10:5131853-5133437	A549	lung:	n/a	n/a
30	FOSL2	chr10:5131870-5132458	A549	lung:	n/a	n/a
31	FOXA2	chr10:5131965-5132669	A549	lung:	n/a	n/a
32	CTCF	chr10:5132360-5132510	AG09309	skin:	n/a	n/a
33	CTCF	chr10:5132029-5132549	HCT-116	colon:	n/a	n/a
34	RAD21	chr10:5132060-5132459	HepG2	liver:	n/a	n/a
35	MAX	chr10:5132034-5132506	A549	lung:	n/a	n/a
36	EP300	chr10:5131931-5132519	A549	lung:	n/a	n/a
37	FOXA1	chr10:5131994-5132480	T-47D	breast:	n/a	n/a
38	POLR2A	chr10:5132089-5132477	MCF10A-Er-Src	breast:	n/a	n/a
39	RAD21	chr10:5132017-5132507	HepG2	liver:	n/a	n/a
40	FOXA1	chr10:5132010-5132566	HepG2	liver:	n/a	n/a
41	GATA3	chr10:5131828-5132681	A549	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5131798..5132693-chr10:5325154..5326138,5	MCF-7	breast:
2	chr10:5118918..5120947-chr10:5130785..5133580,2	MCF-7	breast:
3	chr10:5124077..5126424-chr10:5132088..5134931,2	K562	blood:
4	chr10:5132364..5134075-chr10:5134147..5137113,2	MCF-7	breast:

No data

Variant related genes	Relation type
AKR1C3	TF binding region
ENSG00000239142	Chromatin interaction
ENSG00000196139	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11252956	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11813376	1.00[AMR][1000 genomes]
rs11818111	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11818634	1.00[AMR][1000 genomes]
rs11818810	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11819343	1.00[AMR][1000 genomes]
rs12387	0.82[AFR][1000 genomes]
rs17134355	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134472	1.00[AMR][1000 genomes]
rs17134526	1.00[AMR][1000 genomes]
rs17155741	1.00[AMR][1000 genomes]
rs1937839	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1937849	0.80[AFR][1000 genomes]
rs35961661	1.00[AMR][1000 genomes]
rs57781295	1.00[AMR][1000 genomes]
rs58125745	1.00[AMR][1000 genomes]
rs58190365	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59030156	1.00[AMR][1000 genomes]
rs60244159	1.00[AMR][1000 genomes]
rs7083459	1.00[AMR][1000 genomes]
rs72549134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73598098	0.82[AFR][1000 genomes]
rs7474817	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS 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 target site	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv430122	chr10:4986040-5134511	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv1036566	chr10:5037926-5261426	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv549883	chr10:5037926-5275762	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv1036667	chr10:5076258-5133621	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
18	nsv1047484	chr10:5076258-5261482	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv1036291	chr10:5076258-5456234	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv1042487	chr10:5090313-5196900	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv540463	chr10:5090313-5196900	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv540464	chr10:5108345-5196815	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv540465	chr10:5108345-5261482	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv540466	chr10:5114577-5196815	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	nsv540467	chr10:5114577-5225365	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv540468	chr10:5114577-5261482	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
27	nsv540469	chr10:5120774-5225365	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
28	nsv540470	chr10:5120774-5261482	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5131800-5132800	Enhancers	HepG2	liver
2	chr10:5131800-5133600	Enhancers	NHEK	skin
3	chr10:5132000-5132800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:5132000-5133200	Enhancers	A549	lung
5	chr10:5132200-5132600	Enhancers	Stomach Mucosa	stomach
6	chr10:5132200-5133600	Enhancers	HMEC	breast
7	chr10:5132200-5136200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:5132400-5135800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:5132400-5136000	Weak transcription	Duodenum Mucosa	Duodenum

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