Variant report

Variant	rs4242046
Chromosome Location	chr5:54127790-54127791
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:54123243..54126071-chr5:54126953..54129428,2	K562	blood:
2	chr5:54013909..54016441-chr5:54127667..54129605,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10036257	0.98[ASN][1000 genomes]
rs10036606	0.90[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	0.98[ASN][1000 genomes]
rs10042495	0.98[ASN][1000 genomes]
rs10043408	0.89[ASN][1000 genomes]
rs10045175	0.98[ASN][1000 genomes]
rs10045765	0.98[ASN][1000 genomes]
rs10045790	0.87[ASN][1000 genomes]
rs10050561	0.86[ASN][1000 genomes]
rs10053168	0.96[ASN][1000 genomes]
rs10057871	0.98[ASN][1000 genomes]
rs10058571	0.98[ASN][1000 genomes]
rs10058862	0.98[ASN][1000 genomes]
rs10061958	0.81[ASN][1000 genomes]
rs10066294	0.97[ASN][1000 genomes]
rs10066622	0.98[ASN][1000 genomes]
rs10068073	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10071183	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10073662	0.87[ASN][1000 genomes]
rs10073721	0.87[ASN][1000 genomes]
rs10434559	0.86[ASN][1000 genomes]
rs10461588	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10471923	0.98[ASN][1000 genomes]
rs1073709	0.98[ASN][1000 genomes]
rs10737956	0.90[ASN][1000 genomes]
rs10805463	0.96[ASN][1000 genomes]
rs10805468	0.88[ASN][1000 genomes]
rs10805469	1.00[ASN][1000 genomes]
rs10940427	0.93[ASN][1000 genomes]
rs10940428	0.98[ASN][1000 genomes]
rs11950757	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11952681	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11959080	0.86[ASN][1000 genomes]
rs12514244	0.98[ASN][1000 genomes]
rs12515327	1.00[ASN][1000 genomes]
rs12520494	0.97[ASN][1000 genomes]
rs12522199	0.98[ASN][1000 genomes]
rs13155441	0.98[ASN][1000 genomes]
rs13161195	0.82[AMR][1000 genomes]
rs13161386	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13161718	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13167527	0.98[ASN][1000 genomes]
rs13171964	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13173669	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13180287	0.98[ASN][1000 genomes]
rs13186826	0.98[ASN][1000 genomes]
rs1991498	0.85[CEU][hapmap]
rs4074332	0.86[JPT][hapmap]
rs4242044	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4242045	0.98[ASN][1000 genomes]
rs4242047	1.00[ASN][1000 genomes]
rs4242048	0.97[ASN][1000 genomes]
rs4282277	0.86[ASN][1000 genomes]
rs4289528	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4290968	0.96[ASN][1000 genomes]
rs4292417	0.80[ASN][1000 genomes]
rs4298212	0.86[ASN][1000 genomes]
rs4315891	0.80[EUR][1000 genomes]
rs4320207	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4320216	0.83[TSI][hapmap]
rs4336310	0.96[ASN][1000 genomes]
rs4336311	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4356994	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4362906	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	0.96[ASN][1000 genomes]
rs4451014	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4457032	0.96[ASN][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	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4582235	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4591702	0.98[ASN][1000 genomes]
rs4610422	0.98[ASN][1000 genomes]
rs4645296	0.91[ASN][1000 genomes]
rs4865586	0.89[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs4865870	0.86[ASN][1000 genomes]
rs4865872	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4865873	0.96[ASN][1000 genomes]
rs4865874	0.96[ASN][1000 genomes]
rs4865875	0.98[ASN][1000 genomes]
rs4865876	0.85[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	0.98[ASN][1000 genomes]
rs6450252	0.98[ASN][1000 genomes]
rs6450253	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6860729	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6860824	0.89[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6863705	0.88[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs6867867	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6887578	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6892315	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6893903	0.84[AMR][1000 genomes];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	0.98[ASN][1000 genomes]
rs7446869	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7708368	0.80[EUR][1000 genomes]
rs7726707	0.81[ASN][1000 genomes]
rs7728303	0.98[ASN][1000 genomes]
rs7728418	0.81[ASN][1000 genomes]
rs7731103	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9292072	0.81[ASN][1000 genomes]
rs9292073	0.87[ASN][1000 genomes]
rs9292074	0.98[ASN][1000 genomes]
rs9687636	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9968754	0.94[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54117200-54138000	Weak transcription	Aorta	Aorta
2	chr5:54118000-54128600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:54118600-54129200	Weak transcription	Placenta	Placenta
4	chr5:54125200-54128600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:54125200-54128800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr5:54125200-54129400	Weak transcription	Spleen	Spleen
7	chr5:54126000-54128200	Enhancers	Fetal Heart	heart
8	chr5:54126000-54132200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:54126400-54128800	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:54126400-54129200	Weak transcription	Ovary	ovary
11	chr5:54126800-54133400	Enhancers	NHLF	lung
12	chr5:54127000-54128200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:54127000-54129400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:54127200-54128000	Enhancers	NHDF-Ad	bronchial
15	chr5:54127200-54129600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:54127200-54129600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:54127400-54128000	Enhancers	Fetal Stomach	stomach
18	chr5:54127400-54128400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:54127400-54135800	Enhancers	Fetal Intestine Small	intestine
20	chr5:54127600-54128600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:54127600-54129200	Weak transcription	Left Ventricle	heart
22	chr5:54127600-54129400	Weak transcription	Pancreas	Pancrea

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