Variant report

Variant	rs1796187
Chromosome Location	chr12:83357678-83357679
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10746262	0.96[EUR][1000 genomes]
rs10778918	0.94[EUR][1000 genomes]
rs10778921	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1434425	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1655611	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1655612	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1682567	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1682575	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1682579	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1682580	1.00[EUR][1000 genomes]
rs1682606	0.96[EUR][1000 genomes]
rs1682607	0.83[EUR][1000 genomes]
rs1682608	0.96[EUR][1000 genomes]
rs1796150	0.92[EUR][1000 genomes]
rs1796157	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1796161	0.96[EUR][1000 genomes]
rs1796162	0.96[EUR][1000 genomes]
rs1796166	0.92[EUR][1000 genomes]
rs1796167	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1796168	0.96[EUR][1000 genomes]
rs1796178	0.88[EUR][1000 genomes]
rs1796296	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1796300	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1821444	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1972801	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2046417	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2062357	0.96[EUR][1000 genomes]
rs2403025	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2403026	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2707753	0.96[EUR][1000 genomes]
rs2707754	0.96[EUR][1000 genomes]
rs2707760	0.86[EUR][1000 genomes]
rs2708000	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28436608	0.80[EUR][1000 genomes]
rs4882531	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6539697	0.92[EUR][1000 genomes]
rs7297707	0.86[EUR][1000 genomes]
rs7299175	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7303058	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7953974	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	nsv559557	chr12:83334204-83453620	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	nsv469495	chr12:83339933-83374779	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv559558	chr12:83339933-83374779	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv2016291	chr12:83357393-83357821	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83347000-83367200	Weak transcription	Gastric	stomach
2	chr12:83347000-83379600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:83348600-83358000	Weak transcription	Fetal Lung	lung
4	chr12:83349400-83357800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:83349400-83374600	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:83356200-83379400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:83356400-83357800	Weak transcription	Brain Germinal Matrix	brain
8	chr12:83356400-83381600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:83356600-83358000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:83356600-83359200	Enhancers	Brain Hippocampus Middle	brain
11	chr12:83356600-83381400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:83357000-83358000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:83357000-83358200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:83357600-83358200	Enhancers	Brain Cingulate Gyrus	brain
15	chr12:83357600-83358200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr12:83357600-83358400	Enhancers	Brain Anterior Caudate	brain
17	chr12:83357600-83358400	Enhancers	Fetal Heart	heart
18	chr12:83357600-83358600	Enhancers	Brain Inferior Temporal Lobe	brain

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