Variant report

Variant	rs4573751
Chromosome Location	chr12:44711393-44711394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:44711301-44711680	GM12878	blood:	n/a	n/a
2	SMC3	chr12:44711339-44711722	GM12878	blood:	n/a	n/a
3	RAD21	chr12:44711320-44711864	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr12:44711365-44711557	A549	lung:	n/a	n/a
5	RAD21	chr12:44711236-44711806	HCT-116	colon:	n/a	n/a
6	CTCF	chr12:44711386-44711801	MCF-7	breast:	n/a	n/a
7	CTCF	chr12:44711386-44711649	GM12878	blood:	n/a	n/a
8	RAD21	chr12:44711351-44711902	ECC-1	luminal epithelium:	n/a	n/a
9	RAD21	chr12:44711389-44711783	MCF-7	breast:	n/a	n/a
10	CTCF	chr12:44711388-44711618	MCF-7	breast:	n/a	n/a
11	RAD21	chr12:44711364-44711829	MCF-7	breast:	n/a	n/a
12	CTCF	chr12:44711363-44711645	HepG2	liver:	n/a	n/a
13	RAD21	chr12:44711311-44711822	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr12:44711152-44711964	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr12:44711391-44711653	NHEK	skin:	n/a	n/a
16	CTCF	chr12:44711319-44711819	GM12878	blood:	n/a	n/a
17	CTCF	chr12:44711308-44712219	SK-N-SH	brain:	n/a	n/a
18	RAD21	chr12:44711361-44711713	HepG2	liver:	n/a	n/a
19	RAD21	chr12:44711311-44711729	SK-N-SH_RA	brain:	n/a	n/a
20	RAD21	chr12:44711393-44711639	GM12878	blood:	n/a	n/a
21	RAD21	chr12:44711376-44711633	HepG2	liver:	n/a	n/a
22	RUNX3	chr12:44711330-44711687	GM12878	blood:	n/a	n/a
23	RAD21	chr12:44711325-44711712	GM12878	blood:	n/a	n/a
24	RAD21	chr12:44711307-44711773	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr12:44711376-44711815	GM19238	blood:	n/a	n/a
26	RAD21	chr12:44711301-44711957	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr12:44711318-44711818	HCT-116	colon:	n/a	n/a
28	CTCF	chr12:44711385-44711872	GM12892	blood:	n/a	n/a
29	CTCF	chr12:44711313-44711718	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr12:44711393-44711633	Hela-S3	cervix:	n/a	n/a
31	RAD21	chr12:44711352-44711729	A549	lung:	n/a	n/a
32	RAD21	chr12:44711355-44711828	ECC-1	luminal epithelium:	n/a	n/a
33	CTCF	chr12:44711234-44711910	A549	lung:	n/a	n/a
34	RAD21	chr12:44711386-44711754	HCT-116	colon:	n/a	n/a
35	CTCF	chr12:44711349-44711831	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr12:44711380-44711652	Medullo	brain:	n/a	n/a
37	CTCF	chr12:44711380-44711530	K562	blood:	n/a	n/a
38	SMC3	chr12:44711378-44711657	Hela-S3	cervix:	n/a	n/a
39	ZNF143	chr12:44711336-44711684	GM12878	blood:	n/a	n/a
40	CTCF	chr12:44711377-44711636	A549	lung:	n/a	n/a
41	SMC3	chr12:44711185-44711990	SK-N-SH	brain:	n/a	n/a
42	CTCF	chr12:44711319-44711684	IMR90	lung:	n/a	n/a
43	CTCF	chr12:44711369-44711682	GM19240	blood:	n/a	n/a
44	CTCF	chr12:44711384-44711846	Fibrobl	skin:	n/a	n/a
45	SMC3	chr12:44711367-44711716	HepG2	liver:	n/a	n/a
46	RAD21	chr12:44711343-44711682	Hela-S3	cervix:	n/a	n/a
47	RAD21	chr12:44711360-44711684	IMR90	lung:	n/a	n/a
48	CTCF	chr12:44711380-44711640	ProgFib	skin:	n/a	n/a
49	RAD21	chr12:44711358-44711681	HepG2	liver:	n/a	n/a
50	RAD21	chr12:44711333-44711750	A549	lung:	n/a	n/a

No data

Variant related genes	Relation type
TMEM117	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10506243	1.00[EUR][1000 genomes]
rs10506244	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10506245	0.92[EUR][1000 genomes]
rs11182470	0.92[EUR][1000 genomes]
rs11182477	0.92[EUR][1000 genomes]
rs12300292	1.00[EUR][1000 genomes]
rs1527315	0.92[EUR][1000 genomes]
rs17094382	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094386	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094396	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094401	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094405	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094408	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094412	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094421	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094437	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094458	1.00[EUR][1000 genomes]
rs17094465	0.92[EUR][1000 genomes]
rs17094473	0.92[EUR][1000 genomes]
rs17094505	0.92[EUR][1000 genomes]
rs17094509	0.92[EUR][1000 genomes]
rs17094532	0.92[EUR][1000 genomes]
rs17094560	0.92[EUR][1000 genomes]
rs1716605	1.00[EUR][1000 genomes]
rs1726889	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1948424	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2080876	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3858725	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4307772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4544066	0.92[EUR][1000 genomes]
rs7296406	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276261	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74084494	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953537	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953992	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7966220	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975491	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs840774	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv520635	chr12:44707667-44720874	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44712600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:44699000-44713800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:44699000-44736000	Weak transcription	Pancreas	Pancrea
4	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
5	chr12:44703400-44711800	Weak transcription	Fetal Intestine Small	intestine
6	chr12:44706800-44711800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:44709200-44743200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:44710800-44711400	Enhancers	Hela-S3	cervix

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