Variant report

Variant	rs4320207
Chromosome Location	chr5:54126039-54126040
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:54122100..54123880-chr5:54124518..54126459,2	MCF-7	breast:
2	chr5:54123243..54126071-chr5:54126953..54129428,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10036257	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10036606	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10039924	0.87[ASN][1000 genomes]
rs10042288	0.98[ASN][1000 genomes]
rs10042394	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10042495	0.98[ASN][1000 genomes]
rs10043408	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10044938	0.87[AFR][1000 genomes]
rs10045175	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10045765	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10045790	0.87[ASN][1000 genomes]
rs10050561	0.86[ASN][1000 genomes]
rs10053168	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10057871	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10058571	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10058862	0.98[ASN][1000 genomes]
rs10061958	0.81[ASN][1000 genomes]
rs10066294	0.97[ASN][1000 genomes]
rs10066622	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10068073	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10071183	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10073662	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10073721	0.87[ASN][1000 genomes]
rs10434559	0.86[ASN][1000 genomes]
rs10461588	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10471923	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1073709	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10737956	0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10805463	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10805468	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10805469	1.00[ASN][1000 genomes]
rs10940427	0.93[ASN][1000 genomes]
rs10940428	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11950757	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11952681	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11959080	0.86[ASN][1000 genomes]
rs12514244	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12515327	1.00[ASN][1000 genomes]
rs12520494	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12522199	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13155441	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13161195	0.82[AMR][1000 genomes]
rs13161386	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13161718	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13167527	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13171964	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13173669	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13180287	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13186826	0.98[ASN][1000 genomes]
rs1991498	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs35922886	0.84[AFR][1000 genomes]
rs4074332	0.86[JPT][hapmap]
rs4242044	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4242045	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4242046	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242047	1.00[ASN][1000 genomes]
rs4242048	0.97[ASN][1000 genomes]
rs4282277	0.86[ASN][1000 genomes]
rs4289528	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4290968	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4292417	0.80[ASN][1000 genomes]
rs4298212	0.86[ASN][1000 genomes]
rs4315891	0.80[EUR][1000 genomes]
rs4336310	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4336311	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4356994	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4362906	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4373237	0.80[EUR][1000 genomes]
rs4407587	0.80[EUR][1000 genomes]
rs4437335	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4451013	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4451014	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4457032	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4464652	0.84[AFR][1000 genomes]
rs4498213	0.86[ASN][1000 genomes]
rs4505913	0.86[ASN][1000 genomes]
rs4519880	0.98[ASN][1000 genomes]
rs4527555	0.98[ASN][1000 genomes]
rs4527556	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4582235	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4591702	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4610422	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4645296	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4865586	0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs4865870	0.86[ASN][1000 genomes]
rs4865872	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4865873	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4865874	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4865875	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4865876	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4865877	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59664922	0.81[ASN][1000 genomes]
rs6450248	0.81[ASN][1000 genomes]
rs6450251	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6450252	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6450253	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6860729	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6860824	0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs6863705	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs6867867	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6887578	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6892315	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6893903	0.87[EUR][1000 genomes]
rs6899052	0.96[ASN][1000 genomes]
rs73126822	0.81[ASN][1000 genomes]
rs73126828	0.81[ASN][1000 genomes]
rs73126830	0.81[ASN][1000 genomes]
rs7446423	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7446869	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7708368	0.80[EUR][1000 genomes]
rs7726707	0.81[ASN][1000 genomes]
rs7728303	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7728418	0.81[ASN][1000 genomes]
rs7731103	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9292072	0.81[ASN][1000 genomes]
rs9292073	0.87[ASN][1000 genomes]
rs9292074	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9687636	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9968754	0.88[AMR][1000 genomes];1.00[EUR][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	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54117200-54138000	Weak transcription	Aorta	Aorta
2	chr5:54117600-54126800	Weak transcription	NHLF	lung
3	chr5:54118000-54126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:54118000-54128600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:54118600-54129200	Weak transcription	Placenta	Placenta
6	chr5:54121600-54127400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:54123000-54127200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:54124200-54127200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:54125200-54128600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr5:54125200-54128800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr5:54125200-54129400	Weak transcription	Spleen	Spleen
12	chr5:54125800-54126400	Enhancers	Ovary	ovary
13	chr5:54125800-54127000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:54126000-54126600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:54126000-54128200	Enhancers	Fetal Heart	heart
16	chr5:54126000-54132200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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