Variant report

Variant	rs73259591
Chromosome Location	chr12:4222021-4222022
allele	C/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	NFIC	chr12:4221245-4222064	GM12878	blood:	n/a	n/a
2	TBP	chr12:4221549-4222278	GM12878	blood:	n/a	n/a
3	PML	chr12:4221327-4222201	GM12878	blood:	n/a	n/a
4	CREB1	chr12:4221274-4222064	GM12878	blood:	n/a	n/a
5	EP300	chr12:4221492-4222271	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000242444	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs11829820	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11831112	0.96[AFR][1000 genomes]
rs11831812	1.00[ASN][1000 genomes]
rs11832475	1.00[AMR][1000 genomes]
rs11834077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11834174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11836558	1.00[AMR][1000 genomes]
rs11837775	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11838249	1.00[ASN][1000 genomes]
rs1558614	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1558615	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16931100	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16931124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16931128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16931131	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16931139	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16931141	1.00[ASN][1000 genomes]
rs2429453	1.00[ASN][1000 genomes]
rs2532531	0.87[ASN][1000 genomes]
rs2532532	1.00[ASN][1000 genomes]
rs2532533	1.00[ASN][1000 genomes]
rs2532535	1.00[ASN][1000 genomes]
rs2532575	1.00[ASN][1000 genomes]
rs2532576	1.00[ASN][1000 genomes]
rs2540143	1.00[ASN][1000 genomes]
rs2540144	1.00[ASN][1000 genomes]
rs2540145	1.00[ASN][1000 genomes]
rs2540146	1.00[ASN][1000 genomes]
rs2540147	1.00[ASN][1000 genomes]
rs2540150	1.00[ASN][1000 genomes]
rs2724206	0.82[ASN][1000 genomes]
rs2724231	1.00[ASN][1000 genomes]
rs2724232	1.00[ASN][1000 genomes]
rs2724233	1.00[ASN][1000 genomes]
rs36097138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4525313	1.00[ASN][1000 genomes]
rs55772551	1.00[ASN][1000 genomes]
rs55787213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55825747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55891544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56773631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56891486	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57196809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58592888	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58736101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58775468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58927319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59549730	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59746697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59810408	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59914894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59973578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60036022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60989334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257568	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257583	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257588	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257592	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257597	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257599	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257601	1.00[AMR][1000 genomes]
rs73259527	1.00[ASN][1000 genomes]
rs73259530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259533	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73259546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259553	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259596	1.00[ASN][1000 genomes]
rs74058994	1.00[ASN][1000 genomes]
rs74061519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74061522	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74061528	1.00[ASN][1000 genomes]
rs7973836	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription 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	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4216000-4224000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:4216600-4224000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:4216800-4225000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:4217000-4222200	Weak transcription	Fetal Thymus	thymus
5	chr12:4217000-4223800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:4217000-4224000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:4219200-4222200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:4219800-4228000	Enhancers	Fetal Muscle Leg	muscle
9	chr12:4221000-4222200	Weak transcription	Fetal Lung	lung
10	chr12:4221400-4222400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:4221400-4223000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:4221400-4223200	Enhancers	NHEK	skin
13	chr12:4221400-4223400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:4221400-4223400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:4221400-4223400	Enhancers	HMEC	breast
16	chr12:4221600-4223200	Enhancers	HSMMtube	muscle
17	chr12:4221800-4222200	Flanking Active TSS	GM12878-XiMat	blood
18	chr12:4221800-4222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:4221800-4223200	Enhancers	HSMM	muscle
20	chr12:4222000-4223000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:4222000-4223000	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links