Variant report

Variant	rs6748778
Chromosome Location	chr2:52894678-52894679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:52894586..52898148-chr2:52900441..52903520,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10178123	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11889625	0.86[EUR][1000 genomes]
rs12478475	0.84[EUR][1000 genomes]
rs12478486	0.83[EUR][1000 genomes]
rs13393055	0.82[EUR][1000 genomes]
rs13404806	0.82[EUR][1000 genomes]
rs13418868	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13419064	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13419069	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13426132	0.84[JPT][hapmap]
rs13430679	0.80[EUR][1000 genomes]
rs1377954	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1377955	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1377956	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1563197	0.85[EUR][1000 genomes]
rs1563198	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1563199	0.85[EUR][1000 genomes]
rs1563200	0.86[EUR][1000 genomes]
rs1598156	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17043171	0.87[EUR][1000 genomes]
rs17043208	0.81[EUR][1000 genomes]
rs1825373	0.82[EUR][1000 genomes]
rs2356468	0.81[EUR][1000 genomes]
rs2356469	0.81[EUR][1000 genomes]
rs2356470	0.81[EUR][1000 genomes]
rs2356471	0.81[EUR][1000 genomes]
rs350792	0.88[ASN][1000 genomes]
rs61447859	0.84[EUR][1000 genomes]
rs62127850	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6706420	0.87[EUR][1000 genomes]
rs6733798	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874111	chr2:52383698-52962055	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	esv2754871	chr2:52695749-52922949	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834036	chr2:52727240-52916200	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1004695	chr2:52766349-52928948	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1011857	chr2:52787949-52945590	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv874127	chr2:52797840-52933307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv874129	chr2:52826401-52894897	ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv874130	chr2:52829458-52894897	ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv834047	chr2:52874257-53056239	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
10	nsv998380	chr2:52891706-53222155	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52893600-52896200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links