Variant report

Variant	rs4246868
Chromosome Location	chr9:21478318-21478319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10124244	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10757222	0.94[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs10965003	0.81[JPT][hapmap];0.83[YRI][hapmap]
rs10965004	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs10965014	0.90[ASN][1000 genomes]
rs10965015	0.89[ASN][1000 genomes]
rs10965026	0.94[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs10965028	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12346014	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13283527	0.85[EUR][1000 genomes]
rs13283671	0.86[EUR][1000 genomes]
rs1332182	0.86[EUR][1000 genomes]
rs1332186	0.81[EUR][1000 genomes]
rs1332187	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1537275	0.85[EUR][1000 genomes]
rs1576793	0.89[CEU][hapmap]
rs1819462	0.81[JPT][hapmap]
rs1953032	0.80[EUR][1000 genomes]
rs2210436	0.85[EUR][1000 genomes]
rs2383192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4587418	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4977725	0.81[JPT][hapmap]
rs7027316	0.85[ASN][1000 genomes]
rs7861480	0.83[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21454800-21481600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr9:21455200-21481000	Weak transcription	NHDF-Ad	bronchial
3	chr9:21455800-21481000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:21463000-21502200	Weak transcription	HSMM	muscle
5	chr9:21466000-21527600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:21467000-21478600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:21471600-21505600	Weak transcription	HUVEC	blood vessel
8	chr9:21475000-21481000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:21475000-21485600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:21475400-21481000	Weak transcription	NHEK	skin
11	chr9:21476400-21478400	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr9:21476600-21481200	Weak transcription	Stomach Mucosa	stomach
13	chr9:21477000-21505800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:21477200-21481200	Weak transcription	A549	lung
15	chr9:21477400-21479000	Weak transcription	NHLF	lung
16	chr9:21477400-21480400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:21477600-21482600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:21477800-21479000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:21477800-21480600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:21477800-21481000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:21477800-21481000	Weak transcription	HMEC	breast
22	chr9:21477800-21481000	Weak transcription	NH-A	brain
23	chr9:21478000-21478800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:21478200-21480600	Weak transcription	Osteobl	bone

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