Variant report

Variant	rs2567722
Chromosome Location	chr9:116927408-116927409
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:116926463-116927714	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
COL27A1	TF binding region

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1431821	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1560538	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1864723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1864724	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2043196	0.97[ASN][1000 genomes]
rs2567706	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2567707	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2567724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2808770	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2808771	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2808774	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2808775	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2808776	0.86[CHB][hapmap]
rs2808778	0.88[CHB][hapmap]
rs2808779	0.86[CHB][hapmap]
rs2808780	0.86[CHB][hapmap]
rs2808784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2808785	0.85[CHB][hapmap]
rs2808790	0.95[ASN][1000 genomes]
rs2808795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2808796	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2808797	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2808798	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4481685	0.93[ASN][1000 genomes]
rs4588934	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57113194	0.84[ASN][1000 genomes]
rs730619	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs891722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs891727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
4	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
5	nsv870215	chr9:116842614-117070344	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	124 gene(s)	inside rSNPs	diseases
6	nsv893752	chr9:116899258-116944333	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv466527	chr9:116907448-116933449	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv615228	chr9:116907448-116933449	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv466529	chr9:116907553-116930194	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv615229	chr9:116907553-116930194	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv466530	chr9:116916931-116935660	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv615230	chr9:116916931-116935660	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv466531	chr9:116916931-116940418	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv615231	chr9:116916931-116940418	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv3357134	chr9:116925431-116930729	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116919000-116936600	Weak transcription	Brain Hippocampus Middle	brain
2	chr9:116919000-116937600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:116919200-116972000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:116919400-116930000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:116919600-116939600	Weak transcription	Hela-S3	cervix
6	chr9:116921800-116931600	Weak transcription	Aorta	Aorta
7	chr9:116925800-116931800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:116926000-116928600	Weak transcription	HUVEC	blood vessel
9	chr9:116926000-116929800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:116926000-116929800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:116926000-116930000	Weak transcription	Esophagus	oesophagus
12	chr9:116926000-116931600	Weak transcription	Spleen	Spleen
13	chr9:116926000-116937200	Weak transcription	Gastric	stomach
14	chr9:116926200-116928000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr9:116926200-116930000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:116926200-116930000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr9:116926200-116930400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr9:116926200-116934800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr9:116926200-116937400	Weak transcription	Right Ventricle	heart
20	chr9:116926200-116943800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr9:116926400-116928400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:116926400-116928600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:116926400-116928800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:116926400-116928800	Weak transcription	Ovary	ovary
25	chr9:116926400-116931000	Weak transcription	NH-A	brain
26	chr9:116926400-116931600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr9:116926400-116932000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:116926400-116934400	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:116926400-116935200	Weak transcription	Left Ventricle	heart
30	chr9:116926400-116935400	Weak transcription	Right Atrium	heart
31	chr9:116926400-116937000	Weak transcription	Stomach Mucosa	stomach
32	chr9:116926400-116950200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr9:116926400-116950400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr9:116926600-116928400	Weak transcription	NHDF-Ad	bronchial
35	chr9:116926600-116928400	Weak transcription	Osteobl	bone
36	chr9:116926600-116928600	Weak transcription	HSMM	muscle
37	chr9:116926600-116928800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:116926600-116928800	Weak transcription	HSMMtube	muscle
39	chr9:116926600-116930000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr9:116926600-116930400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:116926600-116932400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr9:116926600-116939400	Weak transcription	Fetal Kidney	kidney
43	chr9:116926800-116927600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:116926800-116928000	Strong transcription	Fetal Stomach	stomach
45	chr9:116926800-116928600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:116926800-116928600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:116926800-116928600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr9:116926800-116928600	Weak transcription	Fetal Lung	lung
49	chr9:116926800-116928600	Weak transcription	NHLF	lung
50	chr9:116926800-116928800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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