Variant report

Variant	rs4979508
Chromosome Location	chr9:117932816-117932817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10739433	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10739434	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10759760	0.89[EUR][1000 genomes]
rs10817722	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10982546	0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1335334	0.85[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1335340	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1335344	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1335345	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs1335351	0.91[CEU][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs1335354	0.84[EUR][1000 genomes]
rs1335355	0.95[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs1335356	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs1360823	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs1414138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414148	0.91[CEU][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs1414150	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs1537721	0.89[ASN][1000 genomes]
rs1537727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1537728	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1537731	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1537733	0.83[MEX][hapmap]
rs1591422	0.89[EUR][1000 genomes]
rs1591423	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2094941	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2480934	1.00[YRI][hapmap]
rs2992148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4246907	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4978618	0.89[ASN][1000 genomes]
rs4978625	0.89[EUR][1000 genomes]
rs4978626	0.91[CEU][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs4979511	0.85[EUR][1000 genomes]
rs6478147	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6478150	0.91[CEU][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs6478151	0.87[EUR][1000 genomes]
rs6478152	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6478153	0.91[CEU][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7027442	0.89[EUR][1000 genomes]
rs7027882	0.82[CEU][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs7030031	0.84[JPT][hapmap]
rs7031000	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7043594	0.91[CEU][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7043679	0.91[CEU][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7044001	0.91[CEU][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7044556	0.82[CEU][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs7045288	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7045508	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7045599	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7357796	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7470092	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7847610	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs884789	0.89[ASN][1000 genomes]
rs945258	0.82[CEU][hapmap];0.89[EUR][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	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv6681	chr9:117893926-117938609	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117922000-117944600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:117926400-117933600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:117927200-117933000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:117927200-117933000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:117927400-117933000	Weak transcription	A549	lung
6	chr9:117930000-117964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:117930200-117933000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:117930200-117933000	Weak transcription	NH-A	brain
9	chr9:117930200-117933000	Weak transcription	Osteobl	bone
10	chr9:117930600-117933000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:117930600-117933000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:117930600-117933000	Weak transcription	HSMM	muscle
13	chr9:117931600-117933400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr9:117931800-117933600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr9:117932000-117933600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr9:117932000-117933600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr9:117932000-117935200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr9:117932200-117933600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr9:117932200-117933600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr9:117932200-117933600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr9:117932200-117933600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:117932200-117933600	Enhancers	NHEK	skin
23	chr9:117932200-117934000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr9:117932400-117934800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:117932600-117933400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:117932600-117933400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:117932600-117933400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr9:117932600-117933800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:117932600-117933800	Enhancers	HMEC	breast
30	chr9:117932800-117933200	Enhancers	Fetal Intestine Large	intestine
31	chr9:117932800-117933600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:117932800-117933600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:117932800-117933600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:117932800-117933600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr9:117932800-117933600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:117932800-117933600	Enhancers	Fetal Intestine Small	intestine
37	chr9:117932800-117933600	Enhancers	HSMMtube	muscle
38	chr9:117932800-117933600	Enhancers	NHDF-Ad	bronchial
39	chr9:117932800-117933600	Enhancers	NHLF	lung

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