Variant report

Variant	rs1749424
Chromosome Location	chr1:193257292-193257293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193256575..193258191-chr1:193267837..193270042,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10399607	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10399929	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10732293	0.93[ASN][1000 genomes]
rs10737623	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10754044	0.80[AFR][1000 genomes]
rs10754049	0.81[AFR][1000 genomes]
rs10754052	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10754053	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10754054	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10754055	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10801179	0.82[AFR][1000 genomes]
rs10801180	0.81[AFR][1000 genomes]
rs10801182	0.82[AFR][1000 genomes]
rs10801187	0.83[ASN][1000 genomes]
rs10801188	0.84[ASN][1000 genomes]
rs10801189	0.85[ASN][1000 genomes]
rs10801190	0.92[ASN][1000 genomes]
rs10801191	0.96[ASN][1000 genomes]
rs10801192	0.99[ASN][1000 genomes]
rs10801194	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10921323	0.84[ASN][1000 genomes]
rs10921325	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10921326	0.85[ASN][1000 genomes]
rs10921328	0.93[ASN][1000 genomes]
rs10921330	0.94[ASN][1000 genomes]
rs10921334	0.96[ASN][1000 genomes]
rs10921336	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12064521	0.93[ASN][1000 genomes]
rs12078145	0.96[ASN][1000 genomes]
rs1221502	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12410213	0.93[ASN][1000 genomes]
rs1325197	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1408830	0.92[ASN][1000 genomes]
rs1536097	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1536098	0.94[ASN][1000 genomes]
rs1536099	0.94[ASN][1000 genomes]
rs1578242	0.96[ASN][1000 genomes]
rs1578243	0.96[ASN][1000 genomes]
rs1616234	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1632444	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16835282	0.83[EUR][1000 genomes]
rs1749430	0.83[EUR][1000 genomes]
rs1749431	0.83[EUR][1000 genomes]
rs1749432	0.83[EUR][1000 genomes]
rs1769999	0.83[EUR][1000 genomes]
rs1972344	0.83[EUR][1000 genomes]
rs1972345	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2078083	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2182106	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2251699	0.96[ASN][1000 genomes]
rs2254646	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2477549	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2486842	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3738244	0.94[ASN][1000 genomes]
rs4379660	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4657747	0.93[ASN][1000 genomes]
rs4657848	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs474328	0.96[ASN][1000 genomes]
rs475163	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs497362	0.81[EUR][1000 genomes]
rs503265	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs515964	0.81[EUR][1000 genomes]
rs523402	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs524701	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs543788	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs560900	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs569656	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs571029	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs578639	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59264807	0.83[EUR][1000 genomes]
rs6428151	0.80[AFR][1000 genomes]
rs6428153	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6428154	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6428155	0.82[ASN][1000 genomes]
rs6428156	0.85[ASN][1000 genomes]
rs6428157	0.94[ASN][1000 genomes]
rs6428159	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6428160	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6663162	0.84[ASN][1000 genomes]
rs6665666	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6671476	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6675827	0.96[ASN][1000 genomes]
rs6675833	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6676878	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6680224	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6689006	0.92[ASN][1000 genomes]
rs6697079	0.92[ASN][1000 genomes]
rs693519	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7515024	0.94[ASN][1000 genomes]
rs7518792	0.84[ASN][1000 genomes]
rs7528595	0.83[EUR][1000 genomes]
rs7545223	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7546869	0.82[ASN][1000 genomes]
rs7554925	0.82[ASN][1000 genomes]
rs817136	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs817138	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs817140	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs817142	0.83[EUR][1000 genomes]
rs817143	0.83[EUR][1000 genomes]
rs843844	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs942680	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193218600-193258200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:193243800-193267800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:193250200-193257800	Weak transcription	NHDF-Ad	bronchial
4	chr1:193252600-193258000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:193252800-193258000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:193255200-193258000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:193255200-193280400	Weak transcription	HSMM	muscle

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