Variant report

Variant	rs11723080
Chromosome Location	chr4:48330037-48330038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48322582..48327982-chr4:48329571..48333922,4	K562	blood:
2	chr4:48329154..48338368-chr4:48340296..48348694,15	MCF-7	breast:
3	chr4:48328527..48330606-chr4:48349745..48351670,2	K562	blood:
4	chr4:48270033..48272126-chr4:48328140..48330927,2	K562	blood:

Variant related genes	Relation type
ENSG00000109171	Chromatin interaction
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11947400	0.91[EUR][1000 genomes]
rs2136503	0.80[GIH][hapmap]
rs2271265	0.96[EUR][1000 genomes]
rs309868	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs309870	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs309871	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[LWK][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs309873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs309875	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];0.89[LWK][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs309887	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs418214	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4695369	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55784928	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55860639	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309366	0.91[EUR][1000 genomes]
rs62309367	0.84[EUR][1000 genomes]
rs62309371	0.96[EUR][1000 genomes]
rs62309372	0.96[EUR][1000 genomes]
rs62309393	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62309398	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62309399	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62309400	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62309401	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62309402	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6833004	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852406	0.80[GIH][hapmap]

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	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48324800-48331000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:48325200-48334200	Weak transcription	Placenta	Placenta
3	chr4:48326800-48331200	Weak transcription	K562	blood
4	chr4:48327600-48331200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:48329800-48330400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:48329800-48330600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr4:48329800-48331000	Weak transcription	Psoas Muscle	Psoas
8	chr4:48329800-48331800	Enhancers	HSMMtube	muscle
9	chr4:48330000-48330200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:48330000-48330400	Enhancers	NHDF-Ad	bronchial
11	chr4:48330000-48330600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:48330000-48331000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:48330000-48334200	Enhancers	HSMM	muscle
14	chr4:48330000-48336200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:48330000-48342400	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links