Variant report

Variant	rs2019384
Chromosome Location	chr12:83314837-83314838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10746259	0.92[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs10746261	0.92[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs10862524	0.89[ASN][1000 genomes]
rs10862526	0.81[JPT][hapmap]
rs10862527	0.84[GIH][hapmap];0.81[JPT][hapmap]
rs10862529	0.81[JPT][hapmap]
rs10862530	0.81[GIH][hapmap];0.81[JPT][hapmap]
rs11115492	0.84[CHB][hapmap];0.91[ASN][1000 genomes]
rs11115495	1.00[CHB][hapmap]
rs12297736	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs12809082	1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs1484991	0.92[CHB][hapmap];0.88[JPT][hapmap];0.97[ASN][1000 genomes]
rs1682593	0.81[JPT][hapmap]
rs17010128	0.85[ASN][1000 genomes]
rs17010139	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs17010268	0.81[JPT][hapmap]
rs1796188	0.87[JPT][hapmap]
rs2403020	0.81[JPT][hapmap]
rs2403021	0.87[JPT][hapmap]
rs2403023	0.81[GIH][hapmap];0.87[JPT][hapmap]
rs34176101	0.92[ASN][1000 genomes]
rs34376734	0.92[ASN][1000 genomes]
rs35800218	0.92[ASN][1000 genomes]
rs71450913	0.92[ASN][1000 genomes]
rs7957916	0.81[JPT][hapmap]
rs7970086	0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
4	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83279000-83336400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:83293200-83324200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:83305800-83336800	Weak transcription	Fetal Stomach	stomach
4	chr12:83306600-83316800	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:83307200-83324200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:83307800-83336800	Weak transcription	Fetal Lung	lung
7	chr12:83308000-83317400	Weak transcription	Fetal Intestine Large	intestine
8	chr12:83309800-83323200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:83312400-83315200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:83313400-83317000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:83313400-83317800	Weak transcription	Brain Angular Gyrus	brain
12	chr12:83313800-83316600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:83313800-83317800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:83313800-83321000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:83313800-83322800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:83313800-83324200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:83314600-83317800	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links