Variant report

Variant	rs4419893
Chromosome Location	chr9:18974785-18974786
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1006120	0.81[CHD][hapmap];0.82[MEX][hapmap]
rs10757007	0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs10757008	0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs10757009	0.82[ASN][1000 genomes]
rs10757010	0.82[ASN][1000 genomes]
rs10757012	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1887444	0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs1887445	0.82[ASN][1000 genomes]
rs1932445	0.81[CHD][hapmap];1.00[MEX][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1932448	0.90[CHD][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs1977444	0.84[CHD][hapmap]
rs2039010	0.81[CHD][hapmap];0.82[MEX][hapmap]
rs4278231	0.83[ASN][1000 genomes]
rs4977273	0.82[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4977476	0.91[CHD][hapmap];0.85[ASN][1000 genomes]
rs4977477	0.82[ASN][1000 genomes]
rs4977482	0.81[MEX][hapmap]
rs6475272	0.81[CHD][hapmap]
rs6475273	0.81[CHD][hapmap]
rs6475276	0.81[CHD][hapmap];0.86[MEX][hapmap]
rs6475292	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6475293	0.82[ASN][1000 genomes]
rs6475294	0.90[CHD][hapmap];0.86[MEX][hapmap];0.83[ASN][1000 genomes]
rs6475295	0.83[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6475296	0.88[CHD][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.86[ASN][1000 genomes]
rs6475297	0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs7021572	0.89[CHD][hapmap];0.82[ASN][1000 genomes]
rs7034201	0.82[ASN][1000 genomes]
rs7036652	0.83[ASN][1000 genomes]
rs7045059	0.82[ASN][1000 genomes]
rs7048198	0.82[ASN][1000 genomes]
rs7848918	0.81[CHD][hapmap];0.86[MEX][hapmap]
rs7849807	0.82[ASN][1000 genomes]
rs7856117	0.87[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7865237	0.82[ASN][1000 genomes]
rs7865461	0.80[ASN][1000 genomes]
rs7871450	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7871456	0.83[CHB][hapmap];0.86[CHD][hapmap];0.85[ASN][1000 genomes]
rs7871732	0.83[ASN][1000 genomes]
rs953734	0.82[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv949111	chr9:18758205-18994588	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv892699	chr9:18945868-19025693	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1022697	chr9:18951530-19010894	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4419893	CDKN2B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18970200-18975000	Weak transcription	Fetal Thymus	thymus
2	chr9:18971200-18976600	Weak transcription	Right Atrium	heart
3	chr9:18971200-18979400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:18971200-18981600	Weak transcription	Gastric	stomach
5	chr9:18971400-18976400	Weak transcription	Ovary	ovary
6	chr9:18971400-18979200	Weak transcription	Right Ventricle	heart
7	chr9:18971400-18979400	Weak transcription	Fetal Muscle Leg	muscle
8	chr9:18972400-18974800	Weak transcription	Fetal Lung	lung
9	chr9:18972600-18975200	Weak transcription	Fetal Stomach	stomach
10	chr9:18973200-18976000	Weak transcription	Fetal Kidney	kidney
11	chr9:18973200-18976400	Enhancers	Fetal Heart	heart

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