Variant report

Variant	rs4849188
Chromosome Location	chr2:114027951-114027952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10864911	0.86[EUR][1000 genomes]
rs10864912	0.87[EUR][1000 genomes]
rs11123173	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12990456	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13001920	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374161	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1446246	0.86[EUR][1000 genomes]
rs1466018	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4142815	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6542127	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6720637	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6726151	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6734610	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6753216	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7560701	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs895418	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv535895	chr2:114015492-114037018	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv874901	chr2:114022569-114079565	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv998204	chr2:114023917-114075446	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4849188	LOC654433	Cis_1M	lymphoblastoid	RTeQTL
rs4849188	AC016683.6	cis	Muscle Skeletal	GTEx
rs4849188	AC016683.6	cis	Artery Tibial	GTEx
rs4849188	AC016683.6	cis	Esophagus Mucosa	GTEx
rs4849188	AC016683.6	cis	Whole Blood	GTEx
rs4849188	AC016683.6	cis	Adipose Subcutaneous	GTEx
rs4849188	AC016683.6	cis	lung	GTEx
rs4849188	PAX8	cis	Adipose Subcutaneous	GTEx
rs4849188	PAX8	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113999600-114028400	Weak transcription	Ovary	ovary
2	chr2:114010200-114030400	Weak transcription	GM12878-XiMat	blood
3	chr2:114016200-114028000	Weak transcription	Fetal Brain Female	brain
4	chr2:114019400-114028200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:114021200-114028200	Strong transcription	Duodenum Mucosa	Duodenum
6	chr2:114021600-114028200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:114023200-114039800	Weak transcription	Gastric	stomach
8	chr2:114024000-114030000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:114024200-114029000	Weak transcription	Placenta	Placenta
10	chr2:114025000-114028200	Weak transcription	Fetal Thymus	thymus
11	chr2:114025800-114028600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:114026400-114028600	Weak transcription	Primary T cells from cord blood	blood
13	chr2:114026600-114033400	Weak transcription	Lung	lung
14	chr2:114026600-114034400	Weak transcription	Pancreas	Pancrea
15	chr2:114027200-114028000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:114027600-114028200	Enhancers	Fetal Kidney	kidney

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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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