Variant report

Variant	rs17010596
Chromosome Location	chr12:83493389-83493390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10161148	1.00[AMR][1000 genomes]
rs10161243	1.00[AMR][1000 genomes]
rs11115608	1.00[AMR][1000 genomes]
rs11115610	1.00[AMR][1000 genomes]
rs12308889	1.00[AMR][1000 genomes]
rs12311847	1.00[AMR][1000 genomes]
rs12314265	1.00[AMR][1000 genomes]
rs9805003	1.00[AMR][1000 genomes]

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	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83468600-83502600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr12:83469000-83507600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:83476800-83507200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:83477200-83495800	Weak transcription	Fetal Heart	heart
5	chr12:83483200-83499000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:83486200-83497200	Weak transcription	Pancreas	Pancrea
7	chr12:83490800-83493600	Enhancers	Fetal Brain Male	brain
8	chr12:83492400-83498800	Weak transcription	Brain Angular Gyrus	brain
9	chr12:83492600-83495800	Weak transcription	K562	blood
10	chr12:83492600-83498600	Weak transcription	Fetal Brain Female	brain
11	chr12:83492600-83507800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:83492600-83515800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:83492800-83498400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:83493000-83493400	Weak transcription	Fetal Lung	lung
15	chr12:83493200-83495800	Weak transcription	Fetal Stomach	stomach
16	chr12:83493200-83496200	Weak transcription	Colon Smooth Muscle	Colon

Quick Search:

Input of quick search could be:

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

what's new

Quick links