Variant report

Variant	rs2039380
Chromosome Location	chr9:21482181-21482182
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10491567	0.91[EUR][1000 genomes]
rs10757224	0.81[ASN][1000 genomes]
rs10811549	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10811551	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10811556	0.91[EUR][1000 genomes]
rs10811562	0.85[EUR][1000 genomes]
rs10811563	0.85[EUR][1000 genomes]
rs10811564	0.83[EUR][1000 genomes]
rs10965005	0.83[EUR][1000 genomes]
rs10965008	0.89[ASN][1000 genomes]
rs10965012	0.84[ASN][1000 genomes]
rs10965013	0.84[ASN][1000 genomes]
rs10965017	0.84[ASN][1000 genomes]
rs10965018	0.83[ASN][1000 genomes]
rs10965019	0.89[EUR][1000 genomes]
rs10965020	0.84[ASN][1000 genomes]
rs10965021	0.84[ASN][1000 genomes]
rs10965022	0.84[ASN][1000 genomes]
rs10965023	0.84[ASN][1000 genomes]
rs10965024	0.89[EUR][1000 genomes]
rs10965029	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10965031	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10965034	0.89[EUR][1000 genomes]
rs10965036	0.89[EUR][1000 genomes]
rs10965050	0.81[EUR][1000 genomes]
rs10965053	0.85[EUR][1000 genomes]
rs10965054	0.85[EUR][1000 genomes]
rs10965059	0.80[EUR][1000 genomes]
rs1125488	0.91[EUR][1000 genomes]
rs11532905	0.84[ASN][1000 genomes]
rs11543888	0.83[EUR][1000 genomes]
rs12375583	0.89[EUR][1000 genomes]
rs12376959	0.81[EUR][1000 genomes]
rs12377379	0.80[EUR][1000 genomes]
rs12378286	0.85[EUR][1000 genomes]
rs12378990	0.85[EUR][1000 genomes]
rs12379382	0.85[EUR][1000 genomes]
rs12379709	0.85[EUR][1000 genomes]
rs12379721	0.85[EUR][1000 genomes]
rs1332188	0.89[EUR][1000 genomes]
rs16938425	0.83[ASN][1000 genomes]
rs16938433	0.89[EUR][1000 genomes]
rs16938435	0.93[EUR][1000 genomes]
rs16938448	0.85[EUR][1000 genomes]
rs2039381	0.83[ASN][1000 genomes]
rs55683539	0.85[EUR][1000 genomes]
rs55835613	0.80[EUR][1000 genomes]
rs56122777	0.80[EUR][1000 genomes]
rs56337511	0.89[EUR][1000 genomes]
rs7032680	0.91[EUR][1000 genomes]
rs7034161	0.83[ASN][1000 genomes]
rs72703410	0.87[EUR][1000 genomes]
rs72703411	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72703417	0.89[EUR][1000 genomes]
rs72703418	0.89[EUR][1000 genomes]
rs72703419	0.89[EUR][1000 genomes]
rs72703426	0.89[EUR][1000 genomes]
rs72703445	0.80[EUR][1000 genomes]
rs72703447	0.85[EUR][1000 genomes]
rs72703449	0.85[EUR][1000 genomes]
rs72703450	0.85[EUR][1000 genomes]
rs9644855	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
2	esv2752289	chr9:21361957-21499624	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv466297	chr9:21391698-21507589	Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv613758	chr9:21391698-21507589	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1030064	chr9:21455760-21524674	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	111 gene(s)	inside rSNPs	diseases
6	nsv613759	chr9:21455814-21492506	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1020445	chr9:21464962-21524162	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	109 gene(s)	inside rSNPs	diseases
8	nsv1020232	chr9:21464962-21524999	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	110 gene(s)	inside rSNPs	diseases
9	nsv892740	chr9:21471499-21551513	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	110 gene(s)	inside rSNPs	diseases
10	nsv1031432	chr9:21472601-21608774	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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	122 gene(s)	inside rSNPs	diseases
11	nsv540085	chr9:21472601-21608774	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
12	nsv525510	chr9:21481556-21484695	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21463000-21502200	Weak transcription	HSMM	muscle
2	chr9:21466000-21527600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:21471600-21505600	Weak transcription	HUVEC	blood vessel
4	chr9:21475000-21485600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr9:21477000-21505800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:21477600-21482600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:21478800-21487200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:21479600-21505000	Weak transcription	NHLF	lung
9	chr9:21480600-21483000	Strong transcription	Osteobl	bone
10	chr9:21480600-21483200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:21481000-21483200	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr9:21481000-21483200	Strong transcription	HMEC	breast
13	chr9:21481600-21482600	Weak transcription	A549	lung
14	chr9:21481600-21483000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:21481800-21494400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:21481800-21500000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:21481800-21504800	Weak transcription	NHDF-Ad	bronchial
18	chr9:21481800-21505000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:21482000-21482600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr9:21482000-21487800	Weak transcription	NH-A	brain
21	chr9:21482000-21504800	Weak transcription	NHEK	skin

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