Variant report

Variant	rs1421134
Chromosome Location	chr9:96963304-96963305
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:96960924..96963618-chr9:96965476..96967579,2	K562	blood:

Variant related genes	Relation type
ENSG00000230262	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10125839	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs10739972	1.00[CEU][hapmap];0.95[GIH][hapmap];0.89[MEX][hapmap];0.85[EUR][1000 genomes]
rs11792471	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1833404	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2026618	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.88[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2675279	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2717489	0.86[ASW][hapmap];0.85[CEU][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes]
rs4744322	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7025880	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7045890	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7046438	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7865735	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9299415	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases
3	esv3394266	chr9:96935210-97045514	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	195 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96931400-96965600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:96942400-96964000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:96946200-96965000	Weak transcription	NHLF	lung
4	chr9:96946800-96965400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:96947000-96966200	Weak transcription	Fetal Kidney	kidney
6	chr9:96955000-96964600	Weak transcription	Ovary	ovary
7	chr9:96956800-96963400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:96958400-96963800	Weak transcription	Primary B cells from cord blood	blood
9	chr9:96958600-96963400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:96959400-96963600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:96959600-96964800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:96959800-96963400	Weak transcription	Fetal Brain Male	brain
13	chr9:96960000-96964000	Weak transcription	Left Ventricle	heart
14	chr9:96960200-96965000	Weak transcription	Adipose Nuclei	Adipose
15	chr9:96960400-96964000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr9:96960400-96966000	Weak transcription	HSMMtube	muscle
17	chr9:96961000-96965400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:96961200-96964000	Weak transcription	Fetal Stomach	stomach
19	chr9:96961200-96966200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:96961200-96973600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr9:96961400-96964000	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:96961400-96964000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr9:96962200-96963600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:96962400-96965200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr9:96962600-96963400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:96962600-96963400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:96962600-96963600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:96962800-96963600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr9:96963000-96963800	ZNF genes & repeats	HSMM	muscle
30	chr9:96963000-96964800	Weak transcription	Lung	lung
31	chr9:96963000-96965000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:96963000-96970200	Weak transcription	Gastric	stomach
33	chr9:96963200-96963400	Weak transcription	Osteobl	bone
34	chr9:96963200-96963800	Weak transcription	Primary T cells from cord blood	blood
35	chr9:96963200-96965000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:96963200-96971200	Weak transcription	Aorta	Aorta

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