Variant report

Variant	rs4375863
Chromosome Location	chr2:152574399-152574400
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152567412..152569836-chr2:152573596..152575308,2	K562	blood:
2	chr2:152573927..152576457-chr2:152683878..152686418,2	K562	blood:
3	chr2:152567412..152569218-chr2:152573208..152575308,2	K562	blood:
4	chr2:152569897..152572373-chr2:152573121..152575260,2	K562	blood:

Variant related genes	Relation type
ENSG00000162980	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10170273	0.81[EUR][1000 genomes]
rs10172692	0.83[EUR][1000 genomes]
rs10193188	0.92[EUR][1000 genomes]
rs10930740	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10930777	0.91[EUR][1000 genomes]
rs11695661	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12052828	0.95[EUR][1000 genomes]
rs12328501	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12464543	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12616767	0.86[ASN][1000 genomes]
rs12693090	0.95[EUR][1000 genomes]
rs13015219	0.89[EUR][1000 genomes]
rs4077121	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4077122	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4274593	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4289189	0.96[EUR][1000 genomes]
rs4300824	0.83[ASN][1000 genomes]
rs4309576	0.89[EUR][1000 genomes]
rs4349344	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4355107	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4358117	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4374369	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4381781	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4413159	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425075	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4465763	0.96[EUR][1000 genomes]
rs4508593	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4508594	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4536649	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4564766	0.95[EUR][1000 genomes]
rs4611637	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4614931	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4625904	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4664497	0.96[EUR][1000 genomes]
rs4664498	0.83[ASN][1000 genomes]
rs4664501	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4664502	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6433566	0.96[EUR][1000 genomes]
rs6433569	0.90[EUR][1000 genomes]
rs6433575	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6433603	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6433606	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6433610	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6715755	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6716286	0.97[EUR][1000 genomes]
rs6723129	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6730589	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6733811	0.90[EUR][1000 genomes]
rs6733909	0.95[EUR][1000 genomes]
rs6734148	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6735208	0.93[EUR][1000 genomes]
rs6747113	0.84[EUR][1000 genomes]
rs6760384	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7426114	0.81[EUR][1000 genomes]
rs7563441	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7564024	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7564674	0.96[EUR][1000 genomes]
rs9287990	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152561400-152574800	Strong transcription	Fetal Muscle Leg	muscle
2	chr2:152562200-152582000	Strong transcription	Fetal Muscle Trunk	muscle
3	chr2:152564600-152584000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:152565600-152575400	Weak transcription	Aorta	Aorta
5	chr2:152567400-152574600	Weak transcription	Psoas Muscle	Psoas
6	chr2:152573200-152574600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:152573200-152575400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:152574200-152574400	Flanking Active TSS	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links