Variant report

Variant	rs1921799
Chromosome Location	chr2:206159496-206159497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1207412	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1207422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34052106	0.90[AMR][1000 genomes];0.80[EUR][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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1921799	RAGE	trans	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206097200-206170600	Weak transcription	HSMMtube	muscle
2	chr2:206138800-206162200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:206149400-206160000	Weak transcription	Psoas Muscle	Psoas
4	chr2:206153000-206165800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:206154200-206168200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:206154600-206165800	Weak transcription	Ovary	ovary
7	chr2:206156000-206161000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:206157000-206167200	Weak transcription	Fetal Intestine Large	intestine
9	chr2:206157000-206170400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:206157000-206170800	Weak transcription	Aorta	Aorta
11	chr2:206157400-206169400	Weak transcription	Fetal Intestine Small	intestine
12	chr2:206157400-206170800	Weak transcription	Pancreas	Pancrea
13	chr2:206158200-206159800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:206158200-206159800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:206158400-206160200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:206158600-206166600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:206158800-206159600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:206158800-206162000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:206159000-206161800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:206159200-206159800	Enhancers	Stomach Mucosa	stomach
21	chr2:206159200-206162000	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links