Variant report

Variant	rs2327345
Chromosome Location	chr20:11194225-11194226
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1013497	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1013498	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1016241	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3946078	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4300903	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4813964	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6033054	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6033058	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6033061	0.88[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs6040427	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6078102	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6104722	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6108860	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975481	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1056067	chr20:11174581-11213919	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11186000-11197000	Weak transcription	HSMM	muscle
2	chr20:11186600-11197200	Weak transcription	Pancreas	Pancrea
3	chr20:11186800-11195200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr20:11186800-11197600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:11189200-11195000	Weak transcription	Aorta	Aorta
6	chr20:11189400-11195000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr20:11189600-11195000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr20:11189600-11195000	Weak transcription	Fetal Intestine Small	intestine
9	chr20:11189600-11195000	Weak transcription	Osteobl	bone
10	chr20:11189600-11196800	Weak transcription	Fetal Intestine Large	intestine
11	chr20:11190000-11198200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:11191200-11195200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:11191200-11195200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr20:11191600-11195200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr20:11191800-11197000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr20:11191800-11197000	Weak transcription	HSMMtube	muscle
17	chr20:11193400-11195000	Weak transcription	A549	lung
18	chr20:11193400-11195200	Weak transcription	Fetal Kidney	kidney
19	chr20:11193800-11195200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr20:11194000-11194400	Enhancers	NHEK	skin
21	chr20:11194000-11195200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr20:11194000-11195800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr20:11194000-11197200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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