Variant report

Variant	rs17807293
Chromosome Location	chr13:40081401-40081402
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1475175	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1475176	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1927196	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2018	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3858866	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4943668	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4943669	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4943670	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4943671	0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55838454	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6563712	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6563713	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6563714	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7139794	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7317187	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7321906	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7322026	0.88[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7324077	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7335002	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7335427	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7335605	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7981363	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7982627	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8002574	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs8002691	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs912043	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs912044	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9315691	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9315692	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9548785	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9576824	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9594334	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9594335	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9594336	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9603549	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9603550	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9603551	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9603552	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9603554	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757529	chr13:40040036-40090742	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759933	chr13:40040036-40090742	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1049669	chr13:40081362-40095803	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40073800-40084200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr13:40074200-40094400	Weak transcription	Adipose Nuclei	Adipose
3	chr13:40076400-40084000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr13:40076400-40084000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr13:40076400-40089000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr13:40076400-40096000	Weak transcription	Lung	lung
7	chr13:40077400-40088400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:40077400-40088400	Weak transcription	Right Atrium	heart
9	chr13:40077600-40088400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:40077600-40101400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:40078800-40081800	Enhancers	Fetal Heart	heart
12	chr13:40079800-40081600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr13:40080000-40090400	Weak transcription	Psoas Muscle	Psoas
14	chr13:40080400-40081600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr13:40080400-40081600	Enhancers	Left Ventricle	heart
16	chr13:40080400-40081600	Enhancers	NHLF	lung
17	chr13:40080600-40081800	Enhancers	Right Ventricle	heart
18	chr13:40080600-40082000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:40080800-40081600	Enhancers	Fetal Lung	lung
20	chr13:40080800-40081600	Flanking Active TSS	HMEC	breast
21	chr13:40080800-40081800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:40080800-40081800	Flanking Active TSS	NHEK	skin
23	chr13:40080800-40088200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr13:40081000-40081600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:40081000-40081600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:40081000-40081600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr13:40081000-40081600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr13:40081000-40081600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:40081000-40081600	Enhancers	Rectal Smooth Muscle	rectum
30	chr13:40081000-40081800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:40081000-40081800	Enhancers	Osteobl	bone
32	chr13:40081200-40081600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr13:40081200-40081600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:40081200-40081600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr13:40081200-40081600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:40081200-40081600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:40081200-40081600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr13:40081200-40081600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:40081200-40081600	Enhancers	Colon Smooth Muscle	Colon
40	chr13:40081200-40081600	Enhancers	Fetal Stomach	stomach
41	chr13:40081200-40081600	Enhancers	Ovary	ovary
42	chr13:40081200-40081600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr13:40081200-40081600	Enhancers	HSMM	muscle
44	chr13:40081200-40081600	Enhancers	HSMMtube	muscle
45	chr13:40081200-40081600	Enhancers	NH-A	brain
46	chr13:40081200-40081600	Enhancers	NHDF-Ad	bronchial
47	chr13:40081400-40081600	Enhancers	Liver	Liver
48	chr13:40081400-40081600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr13:40081400-40081800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr13:40081400-40084200	Weak transcription	Esophagus	oesophagus

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