Variant report

Variant	rs3847766
Chromosome Location	chr12:49637566-49637567
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49594725..49597535-chr12:49636172..49638217,2	K562	blood:
2	chr12:49633760..49640540-chr12:49656677..49660210,10	MCF-7	breast:
3	chr12:49632892..49634537-chr12:49636163..49637957,2	K562	blood:
4	chr12:49637551..49640407-chr12:49640802..49643677,3	K562	blood:
5	chr12:49635417..49638399-chr12:49640493..49643287,2	K562	blood:

Variant related genes	Relation type
ENSG00000258101	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10735819	0.88[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10747564	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10875938	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875939	0.84[AMR][1000 genomes]
rs10875941	0.91[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap]
rs10875942	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11168936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2335232	0.91[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap]
rs2335451	0.91[CEU][hapmap];0.83[JPT][hapmap]
rs7307435	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73306251	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7974831	0.93[JPT][hapmap]

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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv518041	chr12:49618043-49645240	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr12:49629200-49653400	Weak transcription	Fetal Kidney	kidney
2	chr12:49629400-49651000	Weak transcription	Fetal Brain Female	brain
3	chr12:49629400-49657800	Weak transcription	Fetal Stomach	stomach
4	chr12:49630600-49646800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:49634400-49637600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:49634400-49638000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:49634600-49638000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:49634800-49638200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:49635200-49638000	Weak transcription	K562	blood
10	chr12:49635400-49637600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:49637200-49639800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:49637200-49639800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:49637200-49639800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:49637200-49640200	Enhancers	HSMM	muscle
15	chr12:49637200-49640400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:49637400-49637600	Weak transcription	HSMMtube	muscle
17	chr12:49637400-49638000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:49637400-49638000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:49637400-49638000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:49637400-49638000	Enhancers	NH-A	brain
21	chr12:49637400-49638000	Enhancers	Osteobl	bone
22	chr12:49637400-49639800	Enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links