Variant report

Variant	rs11182413
Chromosome Location	chr12:44470922-44470923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11182360	1.00[AMR][1000 genomes]
rs11182362	1.00[AMR][1000 genomes]
rs11182365	1.00[AMR][1000 genomes]
rs11182369	1.00[AMR][1000 genomes]
rs11182373	1.00[AMR][1000 genomes]
rs11182378	1.00[AMR][1000 genomes]
rs11182379	1.00[AMR][1000 genomes]
rs11182381	1.00[JPT][hapmap]
rs11182383	1.00[AMR][1000 genomes]
rs11182386	1.00[AMR][1000 genomes]
rs11182387	1.00[AMR][1000 genomes]
rs11182388	1.00[AMR][1000 genomes]
rs11182390	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs11182391	1.00[AMR][1000 genomes]
rs11182394	1.00[AMR][1000 genomes]
rs11182399	1.00[AMR][1000 genomes]
rs11182403	1.00[AMR][1000 genomes]
rs11182406	1.00[AMR][1000 genomes]
rs11182409	1.00[AMR][1000 genomes]
rs12228693	1.00[AMR][1000 genomes]
rs12231403	1.00[AMR][1000 genomes]
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]
rs2012087	1.00[AMR][1000 genomes]
rs3858723	1.00[AMR][1000 genomes]
rs8181703	1.00[AMR][1000 genomes]
rs842207	1.00[JPT][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44458400-44482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44464200-44473600	Weak transcription	Fetal Intestine Small	intestine
3	chr12:44467600-44482600	Weak transcription	Left Ventricle	heart
4	chr12:44469400-44495600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:44470000-44471400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr12:44470400-44471200	Enhancers	Duodenum Mucosa	Duodenum
7	chr12:44470600-44471000	Flanking Active TSS	Colon Smooth Muscle	Colon
8	chr12:44470600-44471000	Enhancers	Psoas Muscle	Psoas
9	chr12:44470600-44471000	Enhancers	Small Intestine	intestine
10	chr12:44470600-44471200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:44470600-44471200	Enhancers	Fetal Stomach	stomach
12	chr12:44470600-44471200	Enhancers	Ovary	ovary
13	chr12:44470600-44471400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:44470600-44471400	Enhancers	Rectal Smooth Muscle	rectum
15	chr12:44470800-44471200	Weak transcription	Aorta	Aorta
16	chr12:44470800-44471200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:44470800-44471400	Enhancers	Brain Angular Gyrus	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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