Variant report

Variant	rs3821879
Chromosome Location	chr3:47288905-47288906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47287521..47289047-chr3:47290357..47292031,2	K562	blood:
2	chr3:47192656..47195424-chr3:47287048..47290020,2	K562	blood:
3	chr3:47244351..47246647-chr3:47288782..47291421,2	K562	blood:
4	chr3:47285472..47289397-chr3:47290230..47292753,5	K562	blood:

Variant related genes	Relation type
ENSG00000239128	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11712779	1.00[ASN][1000 genomes]
rs12487863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12490251	0.81[AMR][1000 genomes]
rs12490467	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12492463	0.84[AMR][1000 genomes]
rs12493011	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs12495173	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12495438	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12636235	1.00[CEU][hapmap];0.86[AFR][1000 genomes]
rs17079512	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17079543	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17079580	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17079634	1.00[CHD][hapmap]
rs3733093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3933020	0.84[AMR][1000 genomes]
rs4627772	0.89[AMR][1000 genomes]
rs4683321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4683323	0.84[AMR][1000 genomes]
rs4683328	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4858889	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap]
rs58206566	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7638049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1014457	chr3:47222292-47335175	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv536560	chr3:47222292-47335175	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47264200-47322200	Weak transcription	Gastric	stomach
2	chr3:47267200-47308000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:47270800-47307800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:47271400-47308000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:47276400-47305200	Weak transcription	Brain Anterior Caudate	brain
6	chr3:47277000-47292000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:47277600-47300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:47282200-47291800	Weak transcription	HepG2	liver
9	chr3:47282200-47300400	Weak transcription	Fetal Intestine Small	intestine
10	chr3:47282200-47300600	Weak transcription	Lung	lung
11	chr3:47282600-47292400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:47282800-47322400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:47283400-47293200	Weak transcription	Psoas Muscle	Psoas
14	chr3:47284800-47300400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:47285400-47315800	Weak transcription	Pancreas	Pancrea
16	chr3:47285600-47312400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:47285800-47289800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:47286400-47299200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:47287200-47293200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:47287400-47292000	Weak transcription	K562	blood
21	chr3:47287400-47299200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:47288800-47289000	Active TSS	Brain Substantia Nigra	brain

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