Variant report

Variant	rs4848374
Chromosome Location	chr2:111827908-111827909
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]
rs10187034	1.00[CEU][hapmap];0.87[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11123325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1821969	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1898846	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2880119	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4465771	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4849360	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6759108	0.86[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111819400-111829000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:111824200-111829200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:111824400-111828800	Weak transcription	Primary B cells from cord blood	blood
4	chr2:111826000-111828400	Weak transcription	Esophagus	oesophagus
5	chr2:111826000-111829000	Weak transcription	Lung	lung
6	chr2:111826200-111829200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:111826200-111830200	Weak transcription	Pancreas	Pancrea
8	chr2:111826200-111831600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:111826400-111828800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:111826400-111829200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:111826400-111834000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:111826600-111828800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:111826600-111829000	Weak transcription	HMEC	breast
14	chr2:111827000-111828400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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