Variant report

Variant	rs62243906
Chromosome Location	chr3:46170396-46170397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46149539..46152315-chr3:46168852..46171063,2	K562	blood:
2	chr3:46169290..46171223-chr3:46177395..46178997,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10433607	0.95[ASN][1000 genomes]
rs10510747	0.86[EUR][1000 genomes]
rs1118021	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12054287	0.88[EUR][1000 genomes]
rs12107600	0.81[ASN][1000 genomes]
rs12486449	0.83[EUR][1000 genomes]
rs13320534	0.95[ASN][1000 genomes]
rs13434141	0.83[EUR][1000 genomes]
rs1388602	0.93[ASN][1000 genomes]
rs1491953	0.87[ASN][1000 genomes]
rs1491958	0.86[ASN][1000 genomes]
rs1491960	0.83[EUR][1000 genomes]
rs1602580	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17078567	0.83[EUR][1000 genomes]
rs2036295	0.81[EUR][1000 genomes]
rs2133662	0.82[EUR][1000 genomes]
rs2173639	0.82[EUR][1000 genomes]
rs4447807	0.88[EUR][1000 genomes]
rs4490402	0.83[EUR][1000 genomes]
rs4682804	0.85[EUR][1000 genomes]
rs4683174	0.83[EUR][1000 genomes]
rs56800498	0.80[EUR][1000 genomes]
rs61066315	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62242832	0.88[EUR][1000 genomes]
rs62242846	0.80[EUR][1000 genomes]
rs62243869	0.83[EUR][1000 genomes]
rs62243873	0.86[EUR][1000 genomes]
rs62243875	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62243876	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6763341	0.82[EUR][1000 genomes]
rs6807854	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs751625	0.86[EUR][1000 genomes]
rs7641151	0.86[EUR][1000 genomes]
rs7641164	0.86[EUR][1000 genomes]
rs7643426	0.82[EUR][1000 genomes]
rs9819419	0.83[ASN][1000 genomes]
rs9849715	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46164000-46171000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr3:46165400-46170800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:46166000-46170800	Weak transcription	Spleen	Spleen
4	chr3:46166200-46171200	Weak transcription	Primary B cells from cord blood	blood
5	chr3:46166400-46170600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:46166600-46172600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:46166800-46171400	Weak transcription	Placenta	Placenta
8	chr3:46167000-46171000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr3:46167000-46171800	Weak transcription	Adipose Nuclei	Adipose
10	chr3:46167000-46175600	Weak transcription	Fetal Lung	lung
11	chr3:46168800-46171000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr3:46168800-46178200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr3:46169000-46172600	Enhancers	Dnd41	blood
14	chr3:46169400-46170800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:46169800-46171000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:46169800-46173400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:46170000-46177200	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links