Variant report

Variant	rs3923671
Chromosome Location	chr2:11844839-11844840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10929766	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684640	0.90[ASN][1000 genomes]
rs11684644	0.88[ASN][1000 genomes]
rs11691889	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893735	0.93[ASN][1000 genomes]
rs12469060	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3924929	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4366872	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4371339	0.84[ASN][1000 genomes]
rs4517949	0.92[ASN][1000 genomes]
rs4614906	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4640359	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4640362	0.83[ASN][1000 genomes]
rs55864809	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56387825	0.84[ASN][1000 genomes]
rs58026116	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59341236	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60118851	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11837800-11845400	Weak transcription	Pancreas	Pancrea
2	chr2:11837800-11848200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:11838400-11845000	Weak transcription	Brain Anterior Caudate	brain
4	chr2:11838600-11848000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:11841600-11850000	Weak transcription	Brain Substantia Nigra	brain
6	chr2:11841600-11850000	Weak transcription	Ovary	ovary
7	chr2:11841600-11850200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:11841800-11845000	Enhancers	Osteobl	bone
9	chr2:11841800-11850200	Weak transcription	Brain Angular Gyrus	brain
10	chr2:11842200-11847600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:11843200-11845000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:11843200-11845600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:11843200-11847800	Weak transcription	Placenta	Placenta
14	chr2:11843600-11845600	Weak transcription	Esophagus	oesophagus
15	chr2:11844200-11854200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:11844400-11847800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:11844600-11849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:11844600-11849800	Weak transcription	NH-A	brain
19	chr2:11844600-11849800	Weak transcription	NHLF	lung
20	chr2:11844600-11856400	Weak transcription	Psoas Muscle	Psoas
21	chr2:11844800-11845000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:11844800-11850000	Weak transcription	NHDF-Ad	bronchial

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