Variant report

Variant	rs10930740
Chromosome Location	chr2:152554564-152554565
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	chr2:152547462..152550339-chr2:152552453..152555229,3	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10170273	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10178880	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10193188	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930723	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10930777	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11695661	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12052828	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12328501	0.83[EUR][1000 genomes]
rs12464543	0.93[EUR][1000 genomes]
rs12616767	0.81[EUR][1000 genomes]
rs12620077	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12693090	0.97[EUR][1000 genomes]
rs13015219	0.83[EUR][1000 genomes]
rs13032138	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13404704	0.81[EUR][1000 genomes]
rs13428975	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4077121	0.87[EUR][1000 genomes]
rs4077122	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4271765	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4274593	0.85[EUR][1000 genomes]
rs4289189	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4309576	0.85[EUR][1000 genomes]
rs4349344	0.85[EUR][1000 genomes]
rs4355107	0.85[EUR][1000 genomes]
rs4374369	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4375863	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4381781	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4413159	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4425075	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4465763	0.97[EUR][1000 genomes]
rs4508593	0.85[EUR][1000 genomes]
rs4508594	0.85[EUR][1000 genomes]
rs4536649	0.83[EUR][1000 genomes]
rs4564765	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4564766	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4611637	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4614931	0.85[EUR][1000 genomes]
rs4625904	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4664494	0.81[EUR][1000 genomes]
rs4664497	0.97[EUR][1000 genomes]
rs4664501	0.92[EUR][1000 genomes]
rs4664502	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6433566	0.97[EUR][1000 genomes]
rs6433569	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433575	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433603	0.84[EUR][1000 genomes]
rs6433606	0.84[EUR][1000 genomes]
rs6433610	0.85[EUR][1000 genomes]
rs6713162	0.90[ASN][1000 genomes]
rs6715755	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6716286	0.91[EUR][1000 genomes]
rs6723129	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6730589	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6733811	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6733909	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6734148	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6735208	0.97[EUR][1000 genomes]
rs6747113	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6760384	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7426114	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7563441	0.91[EUR][1000 genomes]
rs7564024	0.85[EUR][1000 genomes]
rs7564674	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9287990	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv933357	chr2:152526786-152591138	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152541400-152566800	Weak transcription	Psoas Muscle	Psoas
2	chr2:152552800-152562200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:152553400-152554600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
4	chr2:152553800-152561400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:152554000-152562600	Weak transcription	HSMMtube	muscle
6	chr2:152554400-152561200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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