Variant report

Variant	rs2724231
Chromosome Location	chr12:4178729-4178730
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11829820	1.00[ASN][1000 genomes]
rs11831812	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11834077	1.00[ASN][1000 genomes]
rs11834174	1.00[ASN][1000 genomes]
rs11838249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1558614	1.00[ASN][1000 genomes]
rs1558615	1.00[ASN][1000 genomes]
rs16931100	1.00[ASN][1000 genomes]
rs16931124	1.00[ASN][1000 genomes]
rs16931128	1.00[ASN][1000 genomes]
rs16931139	1.00[ASN][1000 genomes]
rs16931141	1.00[ASN][1000 genomes]
rs2429453	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2532531	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2532532	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2532533	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2532535	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2532575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2532576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2532578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2540138	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2540143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2540144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2540145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2540146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2540147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2540150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2724206	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2724232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2724233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2724238	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs36097138	1.00[ASN][1000 genomes]
rs4525313	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55772551	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55787213	1.00[ASN][1000 genomes]
rs55825747	1.00[ASN][1000 genomes]
rs55891544	1.00[ASN][1000 genomes]
rs56773631	1.00[ASN][1000 genomes]
rs57196809	1.00[ASN][1000 genomes]
rs58592888	1.00[ASN][1000 genomes]
rs58736101	1.00[ASN][1000 genomes]
rs58775468	1.00[ASN][1000 genomes]
rs58927319	1.00[ASN][1000 genomes]
rs59746697	1.00[ASN][1000 genomes]
rs59914894	1.00[ASN][1000 genomes]
rs59973578	1.00[ASN][1000 genomes]
rs60036022	1.00[ASN][1000 genomes]
rs60989334	1.00[ASN][1000 genomes]
rs73257568	1.00[ASN][1000 genomes]
rs73257583	1.00[ASN][1000 genomes]
rs73257588	1.00[ASN][1000 genomes]
rs73257592	1.00[ASN][1000 genomes]
rs73257597	1.00[ASN][1000 genomes]
rs73257599	1.00[ASN][1000 genomes]
rs73259527	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259530	1.00[ASN][1000 genomes]
rs73259531	1.00[ASN][1000 genomes]
rs73259538	1.00[ASN][1000 genomes]
rs73259545	0.86[ASN][1000 genomes]
rs73259546	1.00[ASN][1000 genomes]
rs73259548	1.00[ASN][1000 genomes]
rs73259551	1.00[ASN][1000 genomes]
rs73259574	1.00[ASN][1000 genomes]
rs73259577	1.00[ASN][1000 genomes]
rs73259578	1.00[ASN][1000 genomes]
rs73259581	1.00[ASN][1000 genomes]
rs73259582	1.00[ASN][1000 genomes]
rs73259591	1.00[ASN][1000 genomes]
rs73259596	1.00[ASN][1000 genomes]
rs74058994	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74061519	1.00[ASN][1000 genomes]
rs74061528	1.00[ASN][1000 genomes]
rs7973836	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv832316	chr12:3981184-4180381	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4176800-4179400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:4177800-4178800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:4177800-4179200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:4178200-4178800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:4178200-4178800	Enhancers	Fetal Heart	heart
6	chr12:4178200-4178800	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr12:4178200-4178800	Enhancers	HSMMtube	muscle
8	chr12:4178400-4178800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:4178400-4178800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:4178400-4178800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:4178400-4178800	Enhancers	Placenta	Placenta
12	chr12:4178400-4179000	Enhancers	GM12878-XiMat	blood
13	chr12:4178600-4179000	Enhancers	Fetal Thymus	thymus

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