Variant report

Variant	rs11182399
Chromosome Location	chr12:44437906-44437907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11182302	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11182309	0.81[ASN][1000 genomes]
rs11182360	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182362	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182365	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182369	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182373	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182379	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182381	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182383	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182384	1.00[CHB][hapmap]
rs11182385	1.00[CHB][hapmap]
rs11182386	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182387	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182388	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182391	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182394	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182396	1.00[CHB][hapmap]
rs11182403	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182405	1.00[CHB][hapmap]
rs11182406	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182409	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182413	1.00[AMR][1000 genomes]
rs12099769	1.00[CHB][hapmap]
rs12228693	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12231403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12231978	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12580624	1.00[YRI][hapmap]
rs1565620	1.00[CHB][hapmap]
rs17094057	1.00[AMR][1000 genomes]
rs17094127	1.00[AMR][1000 genomes]
rs17094138	1.00[AMR][1000 genomes]
rs17094142	1.00[AMR][1000 genomes]
rs17094351	1.00[AMR][1000 genomes]
rs1976211	1.00[CHB][hapmap]
rs2012087	1.00[AMR][1000 genomes]
rs3858723	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3929354	1.00[CHB][hapmap]
rs6582494	1.00[JPT][hapmap]
rs6582495	1.00[CHB][hapmap]
rs7959226	1.00[CHB][hapmap]
rs7980005	1.00[CHB][hapmap]
rs8181703	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9919676	1.00[CHB][hapmap]
rs9919742	1.00[CHB][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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
2	chr12:44423400-44447000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:44429000-44446800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44430200-44440400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:44430400-44439600	Weak transcription	Fetal Intestine Large	intestine
6	chr12:44431400-44446400	Weak transcription	Gastric	stomach
7	chr12:44432400-44446400	Weak transcription	Left Ventricle	heart
8	chr12:44432600-44441000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:44436800-44439200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:44437200-44439400	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr12:44437400-44438200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:44437800-44438400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:44437800-44439200	Strong transcription	Stomach Smooth Muscle	stomach

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