Variant report

Variant	rs10803714
Chromosome Location	chr2:10163328-10163329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000172059	Chromatin interaction
ENSG00000188525	Chromatin interaction
ENSG00000260077	Chromatin interaction
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10153772	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10803713	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10929627	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10929628	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11686388	0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11897118	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12990274	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2013996	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34241058	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4347794	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4464250	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55846340	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55873363	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6713406	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6716186	0.90[CHD][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6756056	0.88[CHD][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10803714	RRM2	cis	cerebellum	SCAN
rs10803714	KLF11	cis	multi-tissue	Pritchard

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10159200-10163400	Enhancers	Placenta	Placenta
2	chr2:10159800-10167600	Weak transcription	Right Atrium	heart
3	chr2:10160200-10168000	Weak transcription	Spleen	Spleen
4	chr2:10160400-10175000	Weak transcription	Liver	Liver
5	chr2:10161800-10163600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:10162000-10163400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr2:10162000-10164000	Enhancers	Fetal Intestine Small	intestine
8	chr2:10162000-10164200	Enhancers	Fetal Intestine Large	intestine
9	chr2:10162400-10168200	Weak transcription	K562	blood
10	chr2:10163000-10163600	Enhancers	Duodenum Mucosa	Duodenum
11	chr2:10163200-10164000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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