Variant report

Variant	rs4714951
Chromosome Location	chr6:12897307-12897308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12526453	0.83[CEU][hapmap]
rs12530250	1.00[JPT][hapmap]
rs13201878	0.95[CEU][hapmap]
rs13208248	0.88[EUR][1000 genomes]
rs13211739	1.00[CHB][hapmap]
rs13219256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1537340	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327621	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2876300	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34944538	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35355695	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711863	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4714955	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs62389954	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62389955	0.80[EUR][1000 genomes]
rs6458545	0.81[CEU][hapmap]
rs6922782	0.82[CEU][hapmap]
rs71562459	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8180558	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9381500	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830587	chr6:12769661-12939875	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr6:12885600-12908800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:12894000-12908800	Weak transcription	Fetal Brain Female	brain
3	chr6:12894200-12897400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:12894200-12897400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:12894200-12897400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:12894200-12897600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:12894200-12899200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:12894200-12903200	Weak transcription	Psoas Muscle	Psoas
9	chr6:12894200-12903400	Weak transcription	HSMM	muscle
10	chr6:12894400-12897400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:12894600-12897400	Weak transcription	Fetal Kidney	kidney
12	chr6:12896600-12904800	Weak transcription	Brain Anterior Caudate	brain
13	chr6:12896600-12911000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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