Variant report

Variant	rs6657016
Chromosome Location	chr1:210114848-210114849
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	chr1:210110224..210112000-chr1:210114376..210116543,2	K562	blood:

Variant related genes	Relation type
ENSG00000143469	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11590161	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12401646	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12750599	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17318612	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17318744	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2357212	0.83[AFR][1000 genomes]
rs2451696	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2451697	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2484030	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2484031	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2484032	0.84[ASN][1000 genomes]
rs2484034	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34704551	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34931444	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35256257	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4844954	0.84[ASN][1000 genomes]
rs56131913	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61820396	0.83[EUR][1000 genomes]
rs61820397	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61826848	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6540578	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7528647	0.82[AFR][1000 genomes]
rs7543650	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9662387	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1825811	chr1:210082206-210135806	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210112600-210128400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:210112800-210115400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:210113000-210115400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:210113000-210115800	Weak transcription	Fetal Brain Female	brain
5	chr1:210113000-210118600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:210113200-210119600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:210114200-210119400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:210114400-210118400	Weak transcription	Brain Germinal Matrix	brain
9	chr1:210114600-210115000	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links