Variant report

Variant	rs1372497
Chromosome Location	chr4:47222338-47222339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10003607	0.86[CHB][hapmap]
rs10009164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10010157	0.87[ASN][1000 genomes]
rs10016815	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10016894	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10017723	0.87[CHB][hapmap]
rs10018597	0.88[CHB][hapmap]
rs10025516	0.82[CHB][hapmap];0.84[YRI][hapmap]
rs10805153	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes]
rs11727759	0.88[CHB][hapmap];0.81[GIH][hapmap]
rs11931599	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12502993	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes]
rs1372498	0.94[CHB][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs1372499	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1442091	0.88[CHB][hapmap]
rs1442108	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1442109	0.88[CHB][hapmap];0.85[YRI][hapmap]
rs1470208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530302	0.87[ASN][1000 genomes]
rs1583952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16860067	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16860083	0.94[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.90[ASN][1000 genomes]
rs16860087	0.94[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.90[ASN][1000 genomes]
rs17600169	0.90[ASN][1000 genomes]
rs1837884	0.80[ASN][1000 genomes]
rs28482891	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28498348	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28587597	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28663255	0.90[ASN][1000 genomes]
rs3098797	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3098799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs3098802	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs3114084	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs3114088	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs3114089	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs34457317	0.90[ASN][1000 genomes]
rs4403026	1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[GIH][hapmap];0.81[JPT][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs4426746	1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[GIH][hapmap];0.81[JPT][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs4481218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4586906	0.94[CHB][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap]
rs4695200	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4695201	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4695202	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs55807683	0.90[ASN][1000 genomes]
rs6447541	0.94[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs6834646	0.88[CHB][hapmap];0.80[YRI][hapmap]
rs7666487	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7671741	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs7695365	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap]

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	nsv829922	chr4:47093785-47261181	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1009766	chr4:47155845-47277391	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
3	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr4:47214600-47226600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:47218400-47223600	Weak transcription	NH-A	brain
3	chr4:47218400-47223600	Weak transcription	Osteobl	bone
4	chr4:47218400-47223800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:47219600-47224000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:47220400-47223600	Weak transcription	Fetal Heart	heart
7	chr4:47221000-47223800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:47221600-47222600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:47222200-47222400	Enhancers	Cortex derived primary cultured neurospheres	brain

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