Variant report

Variant	rs17273728
Chromosome Location	chr4:127811294-127811295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:127806872..127808434-chr4:127810720..127812309,2	K562	blood:
2	chr4:127810077..127811688-chr4:127883020..127885703,2	K562	blood:
3	chr4:127809656..127812090-chr4:127818382..127821149,2	K562	blood:
4	chr4:127806872..127808749-chr4:127810720..127812477,2	K562	blood:
5	chr4:127809921..127811534-chr4:127814777..127816891,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10000064	0.90[EUR][1000 genomes]
rs10002741	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012049	0.81[ASN][1000 genomes]
rs11732135	0.81[ASN][1000 genomes]
rs11735147	0.81[ASN][1000 genomes]
rs13107341	0.81[ASN][1000 genomes]
rs13142376	0.82[CEU][hapmap]
rs1397432	0.81[ASN][1000 genomes]
rs1510666	0.99[ASN][1000 genomes]
rs1510671	0.84[ASN][1000 genomes]
rs1510677	0.83[ASN][1000 genomes]
rs1510678	0.84[ASN][1000 genomes]
rs1510694	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17209401	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17209459	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17274168	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17274880	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1848932	0.84[ASN][1000 genomes]
rs1877070	0.84[ASN][1000 genomes]
rs1960849	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2048378	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2391120	0.81[ASN][1000 genomes]
rs2391124	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4373175	0.81[ASN][1000 genomes]
rs4833361	0.81[ASN][1000 genomes]
rs4833363	0.85[AMR][1000 genomes]
rs4834157	0.81[ASN][1000 genomes]
rs5011815	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56305646	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57018884	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60444403	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60662195	0.89[AMR][1000 genomes]
rs62323476	0.91[AMR][1000 genomes]
rs62323479	0.91[AMR][1000 genomes]
rs62323481	0.90[AMR][1000 genomes]
rs62323483	0.91[AMR][1000 genomes]
rs62323516	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6534591	0.84[ASN][1000 genomes]
rs6534593	0.81[ASN][1000 genomes]
rs6813695	0.81[ASN][1000 genomes]
rs6824020	0.91[EUR][1000 genomes]
rs6824257	0.91[EUR][1000 genomes]
rs6828035	0.81[ASN][1000 genomes]
rs7654524	0.82[CEU][hapmap];0.81[ASN][1000 genomes]
rs7689620	0.84[ASN][1000 genomes]
rs9307592	0.81[ASN][1000 genomes]

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	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv428773	chr4:127760014-127913973	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv830055	chr4:127794875-127993821	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17273728	INTU	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127794000-127812200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:127803200-127815600	Weak transcription	K562	blood
3	chr4:127808600-127812000	Weak transcription	NHLF	lung
4	chr4:127809800-127812400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:127810000-127812000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:127810000-127812000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:127810800-127812200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:127810800-127812200	Weak transcription	Osteobl	bone
9	chr4:127811000-127811400	Weak transcription	NHDF-Ad	bronchial
10	chr4:127811000-127812000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:127811200-127812800	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links